F Scaglia

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. ncbi request reprint The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    CNS Drugs 20:443-64. 2006
  2. ncbi request reprint Minimal change nephrotic syndrome: a possible complication of ehrlichiosis
    F Scaglia
    Division of Rheumatology and Immunology, Department of Pediatrics, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322, USA
    Pediatr Nephrol 13:600-1. 1999
  3. doi request reprint New insights in nutritional management and amino acid supplementation in urea cycle disorders
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 100:S72-6. 2010
  4. ncbi request reprint Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Clinical Care Center Suite 1560, 6621 Fannin Street, Houston, TX 77030, USA
    Am J Med Genet C Semin Med Genet 142:113-20. 2006
  5. ncbi request reprint Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Pediatrics 114:925-31. 2004
  6. ncbi request reprint Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA
    Am J Med Genet A 123:172-8. 2003
  7. doi request reprint The role of mitochondrial dysfunction in psychiatric disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, 6621 Fannin, Houston, TX 77030, USA
    Dev Disabil Res Rev 16:136-43. 2010
  8. ncbi request reprint An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Pediatrics 109:150-2. 2002
  9. ncbi request reprint Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria
    F Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    J Child Neurol 16:136-8. 2001
  10. pmc Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Pediatr 2:12. 2002

Collaborators

Detail Information

Publications34

  1. ncbi request reprint The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    CNS Drugs 20:443-64. 2006
    ..Current approaches to the treatment of the MELAS syndrome are based on the use of antioxidants, respiratory chain substrates and cofactors in the form of vitamins; however, no consistent benefits have been observed with these treatments...
  2. ncbi request reprint Minimal change nephrotic syndrome: a possible complication of ehrlichiosis
    F Scaglia
    Division of Rheumatology and Immunology, Department of Pediatrics, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322, USA
    Pediatr Nephrol 13:600-1. 1999
    ..In the appropriate clinical setting, Ehrlichiae should be considered in the etiological assessment of patients with minimal change disease...
  3. doi request reprint New insights in nutritional management and amino acid supplementation in urea cycle disorders
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 100:S72-6. 2010
    ....
  4. ncbi request reprint Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Clinical Care Center Suite 1560, 6621 Fannin Street, Houston, TX 77030, USA
    Am J Med Genet C Semin Med Genet 142:113-20. 2006
    ..This review article summarizes the clinical characterization of this disorder; as well as its biochemical, enzymatic, and molecular features. Treatment, prenatal diagnosis and diagnosis through newborn screening are also discussed...
  5. ncbi request reprint Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Pediatrics 114:925-31. 2004
    ..The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features...
  6. ncbi request reprint Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA
    Am J Med Genet A 123:172-8. 2003
    ....
  7. doi request reprint The role of mitochondrial dysfunction in psychiatric disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, 6621 Fannin, Houston, TX 77030, USA
    Dev Disabil Res Rev 16:136-43. 2010
    ....
  8. ncbi request reprint An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Pediatrics 109:150-2. 2002
    ..In this patient, the use of in vivo and in vitro measures of urea cycle activity in conjunction with a consideration of her clinical history and medical-social situation led to a decision for OLT...
  9. ncbi request reprint Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria
    F Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    J Child Neurol 16:136-8. 2001
    ..The observation of 3-methylglutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion...
  10. pmc Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Pediatr 2:12. 2002
    ..These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period...
  11. doi request reprint Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
    S C Sreenath Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    J Med Genet 46:825-33. 2009
    ..The phenotypic consequences of YWHAE deletion without deletion of PAFAH1B1 have not been studied systematically...
  12. ncbi request reprint Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Arch Neurol 62:317-20. 2005
    ..Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures...
  13. pmc MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation
    K Szigeti
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston 77030, USA
    J Med Genet 41:125-9. 2004
    ..It is important to examine the most significantly affected tissue and to measure TP activity and plasma thymidine in order to arrive at an accurate diagnosis in this condition...
  14. doi request reprint Current molecular diagnostic algorithm for mitochondrial disorders
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 100:111-7. 2010
    ..The ever-expanding list of known disease-causing genes will undoubtedly improve diagnostic accuracy and genetic counseling...
  15. ncbi request reprint Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome
    S H L Kang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Clinical Care Center, 6701 Fannin Street, Houston, TX 77030, USA
    Clin Genet 72:329-38. 2007
    ....
  16. ncbi request reprint Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement
    K Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Ann Neurol 50:747-54. 2001
    ..These findings indicate plasticity of oligodendrocytes in the formation of central nervous system myelin and suggest a potential role for stem cell transplantation therapies...
  17. pmc Epimerase-deficiency galactosemia is not a binary condition
    Kimberly K Openo
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 78:89-102. 2006
    ..Long-term follow-up studies of these and other patients will be required to elucidate the clinical significance of these biochemical abnormalities and the potential impact of dietary intervention on outcome...
  18. ncbi request reprint Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism
    Fernando Scaglia
    Department of Molecular and Human Genetics, Children s Nutritional Research Center, Baylor College of Medicine, Houston, TX 77030, USA
    J Nutr 134:2775S-2782S; discussion 2796S-2797S. 2004
    ....
  19. doi request reprint Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
    David P Dimmock
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Liver Transpl 14:1480-5. 2008
    ..Conversely, in the absence of these neurological features, liver transplantation may be considered a potential treatment...
  20. doi request reprint Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions
    Lee Jun C Wong
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Chem 54:1141-8. 2008
    ..Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal copy number...
  21. ncbi request reprint Human mitochondrial transfer RNAs: role of pathogenic mutation in disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Muscle Nerve 37:150-71. 2008
    ..We also provide readers with an overview of a large variety of mechanisms by which mutations may affect the mitochondrial translation machinery and cause disease...
  22. ncbi request reprint Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 8:641-52. 2006
    ....
  23. doi request reprint Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
    D P Dimmock
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mutat 29:330-1. 2008
    ....
  24. ncbi request reprint Tyrosinemia
    Russell Lam
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Liver Transpl 8:500-1. 2002
  25. doi request reprint Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency
    Fang Yuan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:E1632-51. 2010
    ..680G>A (p.R227H) mutation. Thus, copy number abnormalities at the OCTN2 locus should be considered if by sequencing, an apparently homozygous mutation or only one mutant allele is identified...
  26. ncbi request reprint Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 635E, Houston, TX 77030, USA
    Mol Genet Metab 81:S79-85. 2004
    ..These findings suggest that better titration of protein restriction could be achieved with branched chain amino acid supplementation in patients with UCDs who are on alternative route therapy...
  27. ncbi request reprint Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]
    Svetlana A Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children s Hospital, Clinical Care Center, 6621 Fannin, Houston, TX 77030, USA
    Am J Med Genet A 128:72-7. 2004
    ..We suggest that the absence of many of the characteristic features for trisomy 1q in our patient, may reflect a mosaic pattern of inactivation of the translocated autosomal segment on the derivative X chromosome...
  28. doi request reprint Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 12:19-24. 2010
    ..We report five families in which low free carnitine levels in the infants' newborn screening have led to the diagnosis of maternal systemic primary carnitine deficiency...
  29. ncbi request reprint Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children s Hospital corrected Houston, TX 77030, USA
    AJNR Am J Neuroradiol 26:1675-80. 2005
    ..Here we report the neuroradiologic findings of predominant cerebellar volume loss in children with various mitochondrial disorders...
  30. doi request reprint Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis
    Lakshmi Venkateswaran
    Department of Hematology Oncology, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030 2399, USA
    Pediatr Blood Cancer 53:100-2. 2009
    ..Careful normalization of plasma arginine and citrulline levels and increased surveillance for thrombotic complications should be considered in patients with OTC deficiency...
  31. doi request reprint Citrin deficiency, a perplexing global disorder
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
    Mol Genet Metab 96:44-9. 2009
    ..The finding of citrin mutations in patients of Arabic, Pakistani, French Canadian and Northern European origins supports the concept that citrin deficiency is a panethnic disease...
  32. ncbi request reprint Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1
    Motoaki Sano
    Center for Cardiovascular Development, Baylor College of Medicine, Houston, TX 77030, USA
    Cell Metab 5:129-42. 2007
    ..PGC-1 bound to both MAT1 and Cdk7 in coprecipitation assays. Thus, we demonstrate a requirement for MAT1 in the operation of PGC-1 coactivators that control cell metabolism...
  33. doi request reprint Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    J Child Neurol 23:73-8. 2008
    ..Histologically, no significant alterations were found in axons, but there was evidence of redundant and inappropriately folded myelin, which is a feature attributed to disturbed axon-glial interactions...
  34. ncbi request reprint Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Clin Nutr 78:749-55. 2003
    ..Female carriers of ornithine transcarbamylase deficiency (OTCD) have nearly normal rates of total urea synthesis, but they derive less urea from systemic glutamine amide nitrogen than do healthy persons...