nonketotic hyperglycinemia

Summary

Summary: An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system; an enzyme system with four components: P-, T-, H-, and L-proteins. Deficiency of the P-protein is the most prevalent form. Neonatal and juvenile presentations have been reported. Neonatal onset is more common and may be fatal. Clinical features include SEIZURES; hypotonia; APNEA; and COMA. When the illness presents in childhood there tends to be an associated progressive DEMENTIA accompanied by extrapyramidal signs. (Menkes, Textbook of Child Neurology, 5th ed, p46; Jpn J Hum Genet 1997 Mar;42(1):13-22)

Top Publications

  1. ncbi Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan
    Yin Hsiu Chien
    Department of Medical Genetics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei
    J Child Neurol 19:39-42. 2004
  2. ncbi Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 56:139-43. 2004
  3. ncbi Natural history of nonketotic hyperglycinemia in 65 patients
    J E Hoover-Fong
    Department of Pediatrics and Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
    Neurology 63:1847-53. 2004
  4. ncbi Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations
    Derek A Applegarth
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 140:186-8. 2006
  5. ncbi Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation
    Stanley H Korman
    Department of Clinical Biochemistry, Mt Scopus, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 59:411-5. 2006
  6. ncbi Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia
    Chang Y Tsao
    Department of Pediatrics and Neurology, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 134:198-201. 2005
  7. ncbi Early myoclonic encephalopathy and nonketotic hyperglycinemia
    Samantha Rossi
    Neonatal Intensive Care Unit, Istituti Clinici di Perfezionamento, Milan, Italy
    Pediatr Neurol 41:371-4. 2009
  8. ncbi Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation
    T A G M Huisman
    Department of Neuroradiology and Magnetic Resonance, University Children s Hospital Zurich, Switzerland
    Eur Radiol 12:858-61. 2002
  9. ncbi [Proton MR spectroscopy of nonketotic hyperglycinemia]
    Y Suzuki
    Division of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka
    No To Hattatsu 33:422-5. 2001
  10. ncbi Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia
    Hyung Ho Lee
    Department of Chemistry, College of Natural Sciences, Seoul National University, Seoul 151 742, Korea
    J Biol Chem 279:50514-23. 2004

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Scientific Experts

Detail Information

Publications137 found, 100 shown here

  1. ncbi Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan
    Yin Hsiu Chien
    Department of Medical Genetics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei
    J Child Neurol 19:39-42. 2004
    Neonatal-type nonketotic hyperglycinemia treatment remains unsatisfactory, even if started early. A review of six patients who underwent treatment for neonatal-type nonketotic hyperglycinemia in our hospital is presented...
  2. ncbi Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 56:139-43. 2004
    Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal ..
  3. ncbi Natural history of nonketotic hyperglycinemia in 65 patients
    J E Hoover-Fong
    Department of Pediatrics and Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
    Neurology 63:1847-53. 2004
    Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system...
  4. ncbi Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations
    Derek A Applegarth
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 140:186-8. 2006
  5. ncbi Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation
    Stanley H Korman
    Department of Clinical Biochemistry, Mt Scopus, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 59:411-5. 2006
    ..To determine whether the devastating outcome of neonatal-onset glycine encephalopathy (NKH) could be improved by instituting treatment immediately at birth rather than after symptoms are already well established...
  6. ncbi Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia
    Chang Y Tsao
    Department of Pediatrics and Neurology, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 134:198-201. 2005
    ..complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain...
  7. ncbi Early myoclonic encephalopathy and nonketotic hyperglycinemia
    Samantha Rossi
    Neonatal Intensive Care Unit, Istituti Clinici di Perfezionamento, Milan, Italy
    Pediatr Neurol 41:371-4. 2009
    Early myoclonic encephalopathy is an epileptic syndrome with different etiologies. Nonketotic hyperglycinemia is one cause...
  8. ncbi Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation
    T A G M Huisman
    Department of Neuroradiology and Magnetic Resonance, University Children s Hospital Zurich, Switzerland
    Eur Radiol 12:858-61. 2002
    b>Nonketotic hyperglycinemia (NKH) is an inborn error of amino acid metabolism caused by a defect in the glycine cleavage multienzyme complex resulting in high concentrations of glycine within the brain and spinal cord...
  9. ncbi [Proton MR spectroscopy of nonketotic hyperglycinemia]
    Y Suzuki
    Division of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka
    No To Hattatsu 33:422-5. 2001
    ..A girl with the neonatal type of nonketotic hyperglycinemia was studied by MRS using a long-echo-time point-resolved technique...
  10. ncbi Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia
    Hyung Ho Lee
    Department of Chemistry, College of Natural Sciences, Seoul National University, Seoul 151 742, Korea
    J Biol Chem 279:50514-23. 2004
    ..Its deficiency in human causes nonketotic hyperglycinemia, an inborn error of glycine metabolism...
  11. ncbi Sequential MR imaging changes in nonketotic hyperglycinemia
    J Mourmans
    Department of Pediatric Neurology, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    AJNR Am J Neuroradiol 27:208-11. 2006
    ..DWI) and diffusion tensor imaging (DTI) were performed in a patient with neonatal onset nonketotic hyperglycinemia (NKH)...
  12. ncbi Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 27:343-52. 2006
    b>Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms...
  13. ncbi Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia
    Hasan Tekgul
    Department of Pediatrics, Division of Child Neurology, University Medical School, Izmir, Turkey
    J Child Neurol 21:82-4. 2006
    ..Here we present the vigabatrin experience in two patients with early myoclonic encephalopathy owing to nonketotic hyperglycinemia (glycine encephalopathy)...
  14. ncbi Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
    M Takayanagi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Genet 106:298-305. 2000
    Mutations in the glycine decarboxylase gene (GLDC) cause nonketotic hyperglycinemia (NKH), an in-born error of metabolism characterized by severe neurological disturbance...
  15. ncbi Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis
    D A Applegarth
    Department of Pediatrics, University of British Columbia, 4480 Oak Street, Vancouver, V6H 3V4, British Columbia
    Mol Genet Metab 74:139-46. 2001
    b>Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage enzyme complex (GCS). GCS is a complex of four proteins encoded on four different chromosomes...
  16. pmc Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia
    Tadashi Nakai
    RIKEN Harima Institute at SPring 8, Mikazuki, Sayo, Hyogo, Japan
    EMBO J 24:1523-36. 2005
    ..These results provide insights into the molecular basis of nonketotic hyperglycinemia.
  17. ncbi Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia
    Angele Viola
    Center for Magnetic Resonance in Biology and Medicine CRMBM UMR CNRS 6612, Faculty of Medicine, Marseille, France
    Pediatr Res 52:292-300. 2002
    b>Nonketotic hyperglycinemia is a life-threatening disorder in neonates characterized by a deficiency of the glycine cleavage system...
  18. pmc Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant
    C G Choi
    Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
    Korean J Radiol 2:239-42. 2001
    b>Nonketotic hyperglycinemia (NKH) is a rare metabolic brain disease caused by deficient activity of the glycine cleavage system...
  19. ncbi In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia
    L Gabis
    Department of Neurology, State University of New York at Stony Brook 11794-8640, USA
    J Neuroimaging 11:209-11. 2001
    b>Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine metabolism. Defective glycine cleavage causes elevated concentrations of glycine in plasma, urine, and cerebrospinal fluid...
  20. ncbi Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy
    C Conter
    Centre d Etude des Maladies Métaboliques, Hopital Debrousse, Lyon, France
    J Inherit Metab Dis 29:135-42. 2006
    ..No mutation could be found in two patients, suggesting possible defects in the H-protein or gene alterations that could not be identified by our technique. The potential use of genotype determination for prenatal diagnosis is emphasized...
  21. ncbi Focal neuronal loss, reversible subcortical focal T2 hypointensity in seizures with a nonketotic hyperglycemic hyperosmolar state
    S Raghavendra
    Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, 695011 Kerala, India
    Neuroradiology 49:299-305. 2007
    ..Neuroimaging in seizures associated with nonketotic hyperglycemia (NKH) is considered normal. We report magnetic resonance imaging (MRI) abnormalities in four patients with NKH and seizures...
  22. ncbi Benzoate treatment and the glycine index in nonketotic hyperglycinaemia
    J L K Van Hove
    Department of Pediatrics, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Belgium
    J Inherit Metab Dis 28:651-63. 2005
    ..Through its correlation with neurodevelopmental outcome, the glycine index points to potential genetic factors that could contribute to the psychomotor retardation in NKH...
  23. ncbi Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)
    Stanley H Korman
    Hadassah University Hospital, Jerusalem, Israel
    Dev Med Child Neurol 44:712-20. 2002
  24. ncbi Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia
    A Paupe
    Sevice de Pédiatrie et Médecine Néonatale, Centre Hospitalier Poissy St Germain, Paris, France
    Ultrasound Obstet Gynecol 20:616-9. 2002
    ..A diagnosis of non-ketotic hyperglycinemia should be considered when a fetus presents with an abnormality of the corpus callosum. A literature search reviews other inherited diseases associated with hypoplasia of the corpus callosum...
  25. ncbi Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia
    Pek Lan Khong
    Department of Diagnostic Radiology, Queen Mary Hospital, University of Hong Kong, 102 Pokfulam Road, Hong Kong, ROC
    AJNR Am J Neuroradiol 24:1181-3. 2003
    ..we are the first to report the diffusion-weighted MR imaging findings in a 15-day-old neonate with nonketotic hyperglycinemia. We found bilaterally symmetrical lesions of restricted diffusion in the dorsal brain stem, cerebral ..
  26. ncbi Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia
    J R Toone
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
    Hum Mutat 17:76. 2001
    ..gene (aminomethyltransferase, or AMT) of the glycine cleavage enzyme complex was found in a patient with nonketotic hyperglycinemia (NKH)...
  27. ncbi Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia
    A Boneh
    Metabolic Service, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children s Hospital, Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia
    Mol Genet Metab 94:143-7. 2008
    ..Cultural and religious attitudes, which may potentially clash with bioethical and juridical principles, need to be considered...
  28. ncbi Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia
    K Nanao
    Department of Pediatrics, Akita University School of Medicine, Japan
    Hum Genet 93:655-8. 1994
    We have investigated the molecular lesions of T-protein deficiency causing typical or atypical nonketotic hyperglycinemia (NKH) in two unrelated pedigrees...
  29. ncbi A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Genet 102:430-4. 1998
    b>Nonketotic hyperglycinemia (NKH) is caused by a mutation in the genes encoding the components of the glycine cleavage multi-enzyme system...
  30. pmc Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Clin Invest 90:160-4. 1992
    b>Nonketotic hyperglycinemia (NKH) is an autosomal recessive metabolic disorder caused by the defects in the glycine cleavage system (GCS; EC 2.1.2.10), a multienzyme system that consists of four individual components...
  31. pmc The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias
    H Koyata
    Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan
    Am J Hum Genet 48:351-61. 1991
    ..0-kb SacI fragment in the genome of a patient with an atypical nonketotic hyperglycinemia in whom there was an inactive H-protein...
  32. ncbi Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Biochem Biophys Res Commun 174:1176-82. 1991
    ..We studied the structure of the mutant P-protein mRNA expressed in the liver of a patient with nonketotic hyperglycinemia (NKH) deficient of P-protein. A three-base deletion, which resulted in deletion of Phe756, was found...
  33. ncbi [Non-ketotic hyperglycinemia. Transient neonatal form]
    J Vaquerizo
    Departamento de Pediatria, Hospital Universitario Regional, Infanta Cristina, Badajoz
    Rev Neurol 24:293-5. 1996
    ..patient with neonatal epilepsy, with no pattern of burst-suppression, secondary to the transient form of nonketotic hyperglycinemia. Biochemical normalization at two weeks of age was followed by a good clinical evolution and ..
  34. ncbi Nonketotic hyperglycinemia in a patient with the 9p- syndrome
    B K Burton
    Department of Pediatrics, Bowman Gray School of Medicine, Winston Salem, North Carolina 27103
    Am J Med Genet 32:504-5. 1989
    We describe a newborn infant with 9p- syndrome and nonketotic hyperglycinemia. This unusual occurrence may not have been coincidental and suggests that there may be a gene for nonketotic hyperglycinemia located on the short arm of ..
  35. ncbi Nonketotic hyperglycinemia in two siblings with neonatal seizures
    Duangrurdee Wattanasirichaigoon
    Department of Pediatrics, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
    Southeast Asian J Trop Med Public Health 34:202-7. 2003
    ..We report two patients with nonketotic hyperglycinemia (NKH), a rare and lethal congenital metabolic disease...
  36. ncbi Glycine intracerebroventricular administration disrupts mitochondrial energy homeostasis in cerebral cortex and striatum of young rats
    Alana Pimentel Moura
    Departamento de Bioquimica, Instituto de Ciencias Basicas da Saude, Universidade Federal de Rio Grande do Sul, Rua Ramiro Barcelos N 2600 Anexo, Porto Alegre, RS, CEP 90035 003, Brazil
    Neurotox Res 24:502-11. 2013
    High tissue levels of glycine (GLY) are the biochemical hallmark of nonketotic hyperglycinemia (NKH), an inherited metabolic disease clinically characterized by severe neurological symptoms and brain abnormalities...
  37. ncbi High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia
    Massimo Mastrangelo
    Pediatric Neurology Unit, V Buzzi Hospital, A O ICP, Milan, Italy
    J Child Neurol 23:321-4. 2008
    An 11-year-old girl with nonketotic hyperglycinemia who typically presented with a picture of early myoclonic encephalopathy in the neonatal period is presented in this article...
  38. ncbi Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses
    D A Applegarth
    Department of Pediatrics, University of British Columbia, Vancouver, B C, Canada
    Prenat Diagn 20:367-70. 2000
    ..Because of the other two results we now counsel that there is an approximately 1% chance of a pregnancy with a normal CVS activity resulting in an affected child. The clinical and biochemical findings in the three families are discussed...
  39. ncbi Glycine cleavage system in neurogenic regions
    Akiko Ichinohe
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980 8574, Japan
    Eur J Neurosci 19:2365-70. 2004
    ..Inherited deficiency of this system causes nonketotic hyperglycinemia, characterized by severe neurological symptoms and frequent association of brain malformations...
  40. ncbi Neonatal nonketotic hyperglycinemia: a case study and review of management for the advanced practice nurse
    Joanna L Mulligan
    Mercy Medical Center in Baltimore, Maryland, USA
    Neonatal Netw 32:95-103. 2013
    b>Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error of glycine metabolism. In this article, I will present the case of baby girl S...
  41. ncbi Citrullinemia with an atypical presentation: persistent hiccups. Case report
    Halil Degirmencioglu
    División de Neonatología, Hospital Universitario Maternal Zekai Tahir Burak, Turquia
    Arch Argent Pediatr 112:e206-8. 2014
    ..This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often...
  42. ncbi Unilateral putaminal CT, MR, and diffusion abnormalities secondary to nonketotic hyperglycemia in the setting of acute neurologic symptoms mimicking stroke
    Max Wintermark
    Department of Radiology, Neuroradiology Section, University of California, San Francisco, USA
    AJNR Am J Neuroradiol 25:975-6. 2004
    ..A CT scan obtained 1 month later demonstrated faint hyperattenuation of the involved putamen. The reported pathophysiologic considerations for these imaging features are reviewed, and an original explanation is proposed...
  43. ncbi [Prenatal symptoms and diagnosis of inherited metabolic diseases]
    A Brassier
    Centre de référence des maladies héréditaires du métabolisme de Necker, Hopital Necker Enfants Malades, Universite Paris Descartes, AP HP, 149, rue de Sevres, 75015 Paris, France
    Arch Pediatr 19:959-69. 2012
    ..A well-known exception is hypoplasia of corpus callosum, as is sometimes observed in nonketotic hyperglycinemia and sulfite oxidase deficiency...
  44. ncbi Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
    Mireia Del Toro
    Secció de Neurologia Infantil, Barcelona, Spain
    Ann Neurol 60:148-52. 2006
    To report two unrelated patients with a new phenotype of nonketotic hyperglycinemia associated with idiopathic pulmonary hypertension...
  45. ncbi Nonketotic hyperglycinemia: diffusion magnetic resonance imaging findings
    R Nuri Sener
    Department of Radiology, Ege University Hospital, Bornova, Izmir 35100, Turkey
    J Comput Assist Tomogr 27:538-40. 2003
    We report about a boy with nonketotic hyperglycinemia who was studied at 15 days of life with a follow-up examination at age 6 months...
  46. ncbi Non-ketotic hyperglycinemia as the cause of infant seizures--the case study
    Monika E Kaźmierczuk-Skubis
    Department of Neonates and Infants Pathology and Cardiology, Skubiszewski Medical University of Lublin
    Ann Univ Mariae Curie Sklodowska Med 59:237-41. 2004
    ..The taken up treatment decreased the intensity and the frequency of seizure attacks, caused the increase of muscular tone and of motor activity of the child...
  47. ncbi Paracetamol prevents hyperglycinemia in vervet monkeys treated with valproate
    Jacques Viljoen
    Pharmaceutical Chemistry, Unit for Drug Research and Development, School of Pharmacy, North West University, Private Bag X6001, Potchefstroom 2520, South Africa
    Metab Brain Dis 27:327-35. 2012
    ..b>Nonketotic hyperglycinemia (NKH), an autosomal recessive disorder of glycine metabolism, causes increased glycine concentrations in ..
  48. pmc The glycine deportation system and its pharmacological consequences
    Diren Beyoglu
    Hepatology Research Group, Department of Clinical Research, University of Bern, 3010 Bern, Switzerland
    Pharmacol Ther 135:151-67. 2012
    ..When glycine levels are pathologically high, as in congenital nonketotic hyperglycinemia, the glycine deportation system can be upregulated with pharmacological doses of benzoic acid to assist ..
  49. ncbi Valproate-induced worsening of seizures: clue to underlying diagnosis
    Radhika Dhamija
    Department of Pediatric Neurology, Mayo Clinic, Rochester, MN 55905, USA
    J Child Neurol 26:1319-21. 2011
    ..led to a search for an underlying metabolic disorder, and after extensive investigations, a diagnosis of nonketotic hyperglycinemia was made...
  50. ncbi Incidence of inborn errors of metabolism in British Columbia, 1969-1996
    D A Applegarth
    Department of Pediatrics, University of British Columbia
    Pediatrics 105:e10. 2000
    ..This population provides a relatively unique setting for collection of accurate and uniform incidence data because the diagnoses are all made through one laboratory in a population with universal access to government-funded medical care...
  51. pmc Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
    Peter R Baker
    1 Department of Pediatrics, University of Colorado, Aurora, Colorado, 80045, USA
    Brain 137:366-79. 2014
    Patients with nonketotic hyperglycinemia and deficient glycine cleavage enzyme activity, but without mutations in AMT, GLDC or GCSH, the genes encoding its constituent proteins, constitute a clinical group which we call 'variant ..
  52. ncbi Co-occurrence of seizure and chorea in a patient with nonketotic hyperglycemia
    Sun J Chung
    Eur Neurol 54:230-2. 2005
  53. ncbi Metabolic disorders and mental retardation
    Stephen G Kahler
    Genetic Health Services, Victoria Murdoch Children s Research Institute, Royal Children s Hospital, University of Melbourne, Parkville, Victoria, Australia
    Am J Med Genet C Semin Med Genet 117:31-41. 2003
    ..The various forms of nonketotic hyperglycinemia often respond poorly to current therapy...
  54. pmc Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia
    Junko Kanno
    J Med Genet 44:e69. 2007
    ..Our recent study has suggested that there are a considerable number of GLDC mutations which are not identified by the standard exon-sequencing method...
  55. ncbi Epilepsy in inborn errors of metabolism
    Nadia Bahi-Buisson
    Department of Pediatric Neurology, Université Paris Descartes Imaging Institute INSERM U781, Paris, France Electronic address
    Handb Clin Neurol 111:533-41. 2013
    ..The main IEMs that present with epilepsy but offer no specific treatment are nonketotic hyperglycinemia, mitochondrial disorders, sulfite oxidase deficiency, ceroid-lipofuscinosis, Menkes disease, and ..
  56. ncbi [Clinical progress of neonatal non-ketotic hyperglycinemia under treatment]
    A Garcia-Perez
    Servicios de Neuropediatría y Neonatología, Fundacion Hospital Alcorcon, Alcorcon, Spain
    Rev Neurol 39:727-30. 2004
    ....
  57. ncbi A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia
    P Beijer
    Department of Neonatology, Wilhelmina Children s Hospital, University Medical Centre Utrecht, The Netherlands
    Neuropediatrics 43:164-7. 2012
    A term neonate displayed typical features of nonketotic hyperglycinemia (NKH). Conventional magnetic resonance imaging showed corpus callosum hypoplasia and increased signal intensity of the white matter...
  58. pmc Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein
    K Hiraga
    J Clin Invest 68:525-34. 1981
    The activities of then glycine cleavage system in the liver and brain of patient with nonketotic hyperglycinemia was extremely low as compared with those of control human liver and brain...
  59. ncbi Nonketotic hyperglycinemia: a cause of encephalopathy in children
    Carla Veríssimo
    Centro de Neurociencias e Biologia Celular, Universidade de Coimbra, Laboratorio de Bioquimica Genetica, Coimbra, Portugal
    J Child Neurol 28:251-4. 2013
    b>Nonketotic hyperglycinemia is a rare metabolic disorder with severe, frequently fatal, neurologic manifestations. Reliable and accurate diagnosis depends on careful interpretation of laboratory findings...
  60. ncbi Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy
    Juan José Menéndez Suso
    Department of Pediatric Intensive Care Medicine, La Paz University Hospital, Madrid, Spain
    J Pediatr 161:557-9. 2012
    The association of pulmonary hypertensive vascular disease with nonketotic hyperglycinemia is rare...
  61. ncbi Two novel missense mutations observed in nonketotic hyperglycinemia
    In Ae Yoon
    Department of Pediatrics, College of Medicine, Chung Ang University, Dongjak Gu, Seoul, Korea
    Pediatr Neurol 46:401-3. 2012
    b>Nonketotic hyperglycinemia, also known as glycine encephalopathy, is an autosomal recessive disorder of an inborn error of the glycine metabolism, caused by deficiency in the mitochondrial glycine cleavage enzyme...
  62. pmc Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia
    Ji Hun Shin
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Korean J Pediatr 55:301-5. 2012
    b>Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism...
  63. ncbi Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening
    E S Tan
    Genetic Metabolic Disorders Service, The Children s Hospital at Westmead, Sydney, Australia
    Mol Genet Metab 90:446-8. 2007
    ..The remaining patients could not have been diagnosed by newborn screening without an unacceptably high recall rate. We conclude that babies with NKHG are not usually identifiable by current newborn screening strategies...
  64. ncbi The efficacy of vagus nerve stimulation in intractable epilepsy associated with nonketotic hyperglycinemia in two children
    Chang Yong Tsao
    Department of Pediatric, The Ohio State University, Columbus, Ohio 43205, USA
    J Child Neurol 25:375-8. 2010
    b>Nonketotic hyperglycinemia is an inborn error of glycine metabolism and these patients frequently suffer from intractable epilepsy despite treatment with sodium benzoate, dextromethophan, and multiple anticonvulsants...
  65. ncbi Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report
    Marko Culjat
    Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia
    J Comput Assist Tomogr 34:762-5. 2010
    We present brain imaging and spectroscopy data in a neonate with a confirmed classic form of nonketotic hyperglycinemia (NKH), an autosomal-recessive metabolic disorder characterized by accumulation of glycine...
  66. ncbi Pitfalls in measuring cerebrospinal fluid glycine levels in infants with encephalopathy
    Samah Aburahma
    Jordan University of Science and Technology, Irbid, Jordan
    J Child Neurol 26:703-6. 2011
    ..hyperglycinemia and elevated cerebrospinal fluid to plasma glycine ratio are considered pathognomonic of nonketotic hyperglycinemia. To evaluate the significance of cerebrospinal fluid hyperglycinemia and elevated cerebrospinal fluid to ..
  67. ncbi A novel missense mutation in a neonate with nonketotic hyperglycinemia
    Sascha Meyer
    Department of Pediatric and Neonatal Intensive Care Medicine, University Hospital of Saarland, Homburg, Germany
    Pediatr Neurol 43:363-7. 2010
    b>Nonketotic hyperglycinemia (OMIM #605899), also known as glycine encephalopathy, is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage system...
  68. doi Proteomic analysis in cerebrospinal fluid of patients with atypical nonketotic hyperglycinemia and pulmonary hypertension - A pilot study
    Carlos E Rodriguez
    Unitat de Metabolopaties, Hospital Universitari Vall d Hebron, Universitat Autonoma de Barcelona, Spain
    Proteomics Clin Appl 3:1430-9. 2009
    A variant phenotype of nonketotic hyperglycinemia has been described by our group associated with pulmonary hypertension...
  69. ncbi Glycine encephalopathy and delayed emergence from anesthesia
    Chih Min Liu
    Anesth Analg 103:1631. 2006
  70. ncbi Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene
    Catherine Brunel-Guitton
    Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Canada
    Mol Genet Metab 103:193-6. 2011
    b>Nonketotic hyperglycinemia (NKH) is an inborn error of the glycine metabolism...
  71. ncbi Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy
    Shuei Watanabe
    Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Taihakuku, Sendai, Japan
    Brain Dev 34:151-5. 2012
    ..Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic ..
  72. pmc Crystal structure of aminomethyltransferase in complex with dihydrolipoyl-H-protein of the glycine cleavage system: implications for recognition of lipoyl protein substrate, disease-related mutations, and reaction mechanism
    Kazuko Okamura-Ikeda
    Institute for Enzyme Research, The University of Tokushima, Tokushima 770 8503, Japan
    J Biol Chem 285:18684-92. 2010
    ..Several mutations in the human T-protein gene are known to cause nonketotic hyperglycinemia. Here, we report the crystal structure of Escherichia coli T-protein in complex with dihydrolipoate-..
  73. ncbi Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia
    Brett J Manley
    Department of Neonatal Services, Royal Women s Hospital, Parkville, Victoria, Australia
    Pediatr Neurol 42:219-22. 2010
    b>Nonketotic hyperglycinemia is an inborn error of glycine metabolism leading to the accumulation of glycine in the brain. The neonatal form presents in the first days after birth with encephalopathy, seizures. and characteristic "hiccups...
  74. doi Magnetic resonance imaging changes associated with transient homonymous hemianopia in patients with nonketotic hyperglycemia
    Patrick Lavin
    Arch Ophthalmol 126:1467; author reply 2467-8. 2008
  75. ncbi Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child
    Chia Ying Chang
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    Acta Paediatr Taiwan 49:35-7. 2008
    ..His371Asp mutation) in the gene product. The other allele of the GLDC gene was deleted, a mutation inherited from the father...
  76. pmc Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia
    Goro Kikuchi
    Tohoku University, Miyagi, Japan
    Proc Jpn Acad Ser B Phys Biol Sci 84:246-63. 2008
    ..b>Nonketotic hyperglycinemia, a congenital metabolic disorder in human infants, results from defective glycine cleavage activity...
  77. ncbi Hemichorea-hemiballism as the first presentation of type 2 diabetes mellitus
    Andre C Felicio
    Department of Neurology and Neurosurgery, Movement Disorders Unit, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
    Arq Neuropsiquiatr 66:249-50. 2008
  78. ncbi Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view
    Carla Battisti
    Operative Unit of Neurology and Neurometabolic Diseases, Policlinico Le Scotte, University of Siena, V le Bracci, 2, 53100, Siena, Italy
    Neurol Sci 30:179-83. 2009
    ..The symptoms persisted in one of them after recovery of normal glycemia. The pathophysiological mechanism of the disease is discussed in the light of clinical and neuroradiological follow-up...
  79. ncbi Reversible hyperglycemic homonymous hemianopia
    John P Mitchell
    Department of Ophthalmology, New York Presbyterian Hospital, New York, New York 10030, USA
    J Natl Med Assoc 101:373-6. 2009
    ..Her hemianopic visual field loss was reversed after correction of her hyperglycemia. Diabetes mellitus should be considered with the sudden onset of a homonymous hemianopia...
  80. doi Neonatal non-ketotic hyperglycinemia: report of five cases
    Nihal Demirel
    Department of Neonatology, Dr Sami Ulus Children s Hospital, Ankara, Turkey
    Pediatr Int 50:121-3. 2008
  81. ncbi Subthalamic lesion on MR imaging in a patient with nonketotic hyperglycemia-induced hemiballism
    H J Kim
    Department of Neurology, Konkuk University Hospital, Konkuk University School of Medicine, Seoul, Korea
    AJNR Am J Neuroradiol 29:526-7. 2008
    ..We describe a patient with nonketotic hyperglycemia-induced hemiballism, whose responsible lesion (ie, the subthalamus) was demonstrated by MR imaging...
  82. ncbi Early myoclonic encephalopathy
    Mahesh Kamate
    Department of Pediatrics, Child Development Clinic, KLE University s J N Medical College, Belgaum, Karnataka State, India
    Indian Pediatr 46:804-6. 2009
    ..We report an 11 month old infant with EME which was secondary to non-ketotic hyperglycinemia...
  83. ncbi Neonatal nonketotic hyperglycinemia
    Rahul P Bhamkar
    Department of Pediatrics, MGM Medical College and Hospital, Navi, Mumbai, India
    Indian J Pediatr 74:1124-6. 2007
    b>Nonketotic hyperglycinemia has variable phenotypic expressions and a poor prognosis. We report a case of severe neonatal nonketotic hyperglycinemia, who started convulsing immediately after birth. His glycine index was 0...
  84. ncbi Hyperglycaemic hyperosmolar nonketotic state as a cause of low gonadotrophin levels in postmenopausal diabetic women: a role for severe hypernatraemia
    J Lado-Abeal
    Unidade de Enfermedades Tiroideas e Metabolicas, Departamento de Medicina, Complejo Hospitalario Universitario de Santiago de Compostela, Universidad de Santiago de Compostela, Spain
    J Neuroendocrinol 19:983-7. 2007
    ..In conclusion, postmenopausal diabetic women with HHNKS show decreased serum gonadotrophin levels, and severe hypernatraemia may participate in the hypogonadotropism observed in HHNKS...
  85. ncbi Diabetic nonketotic hyperosmolar state: interesting imaging observations in 2 patients with involuntary movements and seizures
    N Shobha
    Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India
    Neurol India 54:440-2. 2006
    ..Magnetic resonance imaging brain of patient 1 showed it to be hyperintense on T1W image and iso-hyper intense on T2W image, minimally enhancing with contrast injection...
  86. ncbi More lessons for the clinician: #2
    Lawrence F Nazarian
    Pediatr Rev 23:439. 2002
  87. ncbi Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
    S Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 46:378-84. 2001
    b>Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism caused by deficiency in the glycine cleavage system (GCS); this system consists of four individual constituents, P-, T-, H-, and L-proteins...
  88. ncbi Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients
    Shigeo Kure
    Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan
    J Pediatr 144:827-9. 2004
    In neonatal-onset nonketotic hyperglycinemia, severe psychomotor retardation is the expected uniform outcome. We report two patients with typical neonatal presentation who showed far better developmental outcomes...
  89. ncbi Genomic organization of the murine aminomethyltransferase gene (Amt)
    Bianca Backofen
    Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bunteweg 17p, 30559 Hannover, Germany
    DNA Seq 13:179-83. 2002
    ..1.2.10). Mutations in this gene in humans lead to nonketotic hyperglycinemia, a fatal Mendelian disease. Here, we report the cloning and sequencing of the murine Amt gene...
  90. ncbi Structure and expression of the glycine cleavage system in rat central nervous system
    Y Sakata
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, 980 8574, Sendai, Japan
    Brain Res Mol Brain Res 94:119-30. 2001
    ..Inherited deficiency of the GCS causes nonketotic hyperglycinemia (NKH), an inborn error of glycine metabolism...
  91. ncbi [Neonatal non-ketotic hyperglycinemia]
    A Aparicio Hernán
    An Esp Pediatr 56:71-2. 2002
  92. ncbi Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia
    J M Neuberger
    Children s Hospital, Memmingen, Germany
    J Inherit Metab Dis 23:22-6. 2000
    ..Thus, this case of mild atypical nonketotic hyperglycinaemia with only moderate psychomotor retardation and without epilepsy benefited from treatment with sodium benzoate in terms of electroencephalographic and behavioural changes...
  93. ncbi Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy)
    Derek A Applegarth
    Prenat Diagn 22:266-7. 2002
  94. ncbi Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)
    Jennifer R Toone
    Department of Pediatrics, University of British Columbia, and Biochemical Genetics Laboratory, B C s Children s Hospital, Vancouver, BC, Canada
    Mol Genet Metab 79:272-80. 2003
    ..The co-occurrence of the polymorphism E211K with the mutation R320H in patients with a severe phenotype is discussed...
  95. ncbi What does it mean to be a carrier for a metabolic disease?
    Edward M Kaye
    Ann Neurol 52:530-1. 2002
  96. ncbi Nonketotic hyperosmolar syndrome from olanzapine, lithium, and valproic acid cotreatment
    Po See Chen
    Ann Pharmacother 37:919-20. 2003
  97. ncbi Transient nonketotic hyperglycinemia: two case reports and literature review
    Didem Aliefendioglu
    Social Security Children s Hospital, Neonatology Unit, Ankara, Turkey
    Pediatr Neurol 28:151-5. 2003
    Transient nonketotic hyperglycinemia is characterized by clinical and biochemical findings similar to those seen in classic nonketotic hyperglycinemia...
  98. ncbi Biochemical and molecular investigations of patients with nonketotic hyperglycinemia
    J R Toone
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
    Mol Genet Metab 70:116-21. 2000
    The investigation of 14 unrelated patients with nonketotic hyperglycinemia led to the identification of mutations in 4 cases...
  99. ncbi [Late-onset nonketotic hyperglycinemia: a case report]
    Takafumi Hasegawa
    Department of Neurology, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    No To Shinkei 54:1068-72. 2002
    ..without ketosis in serum, cerebrospinal fluid, and urine, which lead us to the diagnosis of late-onset nonketotic hyperglycinemia(NKH)...
  100. ncbi Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia
    Loryn Sellner
    Clinical Chemistry, Womens and Childrens Hospital, Perth, WA, Australia
    Mol Genet Metab 84:167-71. 2005
    ..For complete prenatal testing both mutations need to be identified, and we suggest that screening of the entire gene as well as deletional analysis should be considered in those subjects where only one mutation has been identified...
  101. ncbi Four cases of neonatal non-ketotic hyperglycinaemia
    Enver Atay
    Zeynep Kamil Education and Research Hospital of Maternity and Children s Diseases, Istanbul, Turkey
    Ann Trop Paediatr 24:345-7. 2004
    ..Four cases are reported, three of whom died in the neonatal period. The fourth case was treated with dextromethorphan and sodium benzoate. He survived with neurodevelopmental delay but is now almost seizure-free...

Research Grants2

  1. CREATING A MOUSE MODEL OF HYPERGLYCINEMIC NEUROBIOLOGY
    Ada Hamosh; Fiscal Year: 1999
    b>Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism caused by deficiency or dysfunction of the glycine cleavage system (GCS), an enzyme complex expressed in liver, kidney, brain, and placental mitochondria...
  2. HUMAN MITOCHONDRIAL CI-TETRAHYDROFOLATE SYNTHASE
    DEAN APPLING; Fiscal Year: 2005
    ..in human diseases associated with mitochondrial defects, such as the mitochondrial myopathies and nonketotic hyperglycinemia, as well as the recently recognized connection between homocysteine and mitochondrial one-carbon ..