Research Topics
Species | William L NyhanSummaryAffiliation: University of California Country: USA Publications
| Collaborators
|
Detail Information
Publications
Disorders of purine and pyrimidine metabolismWilliam L Nyhan
UCSD School of Medicine, Department of Pediatrics, 0830, 9500 Gilman Drive, La Jolla, CA 92093, USA
Mol Genet Metab 86:25-33. 2005..Adenylosuccinatelyase deficiency and molybdenum cofactor deficiency illustrate the same point...
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiencyW L Nyhan
Department of Pediatrics, University of California, 9500 Gilman Dr, La Jolla, CA 92093 0830, USA
J Inherit Metab Dis 32:S79-82. 2009..They also make the point that holocarboxylase synthetase deficiency in an infant should be detectable in programmes of neonatal screening, which was not clear previously...- Lesch-Nyhan diseaseW L Nyhan
Department of Pediatrics, University of California, San Diego, La Jolla, California 92093, USA
Nucleosides Nucleotides Nucleic Acids 27:559-63. 2008..A considerable number and variety of mutations in the HPRT gene have been discovered... - Lesch-Nyhan DiseaseWilliam L Nyhan
Department of Pediatrics University of California San Diego La Jolla CA 92093 0830, USA
J Hist Neurosci 14:1-10. 2005..Therapy with allopurinol has been effective for those manifestations the disease shares with gout. Treatment for the neurological and behavioral features of the disease remains elusive... - Inherited hyperuricemic disordersWilliam L Nyhan
Departmen tof Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA
Contrib Nephrol 147:22-34. 2005..The undersecretion disorders are autosomal dominantly inherited and are heterogeneous. A major number of these patients result from mutations in the gene that codes for uromodulin. Treatment is with allopurinol... 
Dopamine function in Lesch-Nyhan diseaseW L Nyhan
Department of Pediatrics, University of California, San Diego, California, USA
Environ Health Perspect 108:409-11. 2000..There are decreased quantities and activities of a number of dopaminergic functions. Positron emission tomography scanning has indicated deficiency in the dopamine transporter...- Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liverWilliam L Nyhan
UCSD Pediatrics 0830, 9500 Gilman Drive, La Jolla, CA 92093 0830, USA
Eur J Pediatr 161:377-9. 2002..CONCLUSION: experience with a 24-year-old patient treated with hepatic transplantation indicates that this procedure does not prevent progressive renal failure and neurologic dysfunction... - Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family membersKhue Vu Nguyen
Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California San Diego, San Diego, California 92103 8467, USA
Nucleosides Nucleotides Nucleic Acids 31:616-29. 2012..This approach can be applied for understanding genotype-phenotype correlations for other human genetic diseases... - Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNAKhue Vu Nguyen
Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, San Diego, CA 92103 8467, USA
Mol Genet Metab 106:498-501. 2012.... - Novel mutations in the human HPRT geneKhue Vu Nguyen
Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, San Diego, California 92103 8467, USA
Nucleosides Nucleotides Nucleic Acids 30:440-5. 2011..133A > G, p.45R > G; c.35A > C, p.12D > A; c.88delG; exon 7: c.530A > T, p.177D > V; and c.318 + 1G > C: IVS3 + 1G > C splice site mutation... - Prenatal diagnosis of Lesch-Nyhan diseaseWilliam L Nyhan
Department of Pediatrics and Institute for Molecular Genetics, University of California, San Diego, La Jolla 92093, USA
Prenat Diagn 23:807-9. 2003 - Chronic treatment of mitochondrial disease patients with dichloroacetateBruce A Barshop
Department of Pediatrics, University of California San Diego, La Jolla, CA 92093 0830, USA
Mol Genet Metab 83:138-49. 2004.... - Sensitive assay for mitochondrial DNA polymerase gammaR K Naviaux
The Mitochondrial and Metabolic Disease Center, University of California, San Diego, USA
Clin Chem 45:1725-33. 1999..Primary or secondary deficiencies in the activity of DNA polymerase gamma may lead to mitochondrial DNA depletion. We describe a sensitive and robust clinical assay for this enzyme... - Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatmentL P Thuy
Department of Pediatrics 0830, University of California, San Diego, La Jolla 92093, USA
Clin Chim Acta 284:59-68. 1999..The newborn was clinically well and maintained on biotin treatment after birth at 20 mg per day. Carboxylase activities in lymphocytes were normal or slightly lower than the normal range... - Prenatal diagnosis and treatment of holocarboxylase synthetase deficiencyL P Thuy
Department of Pediatrics and Institute for Molecular Genetics, University of California, San Diego, La Jolla 92093 0830, USA
Prenat Diagn 19:108-12. 1999..The infant was clinically well at birth, and organic acid analysis of the blood and urine revealed no accumulation of the characteristic metabolites... 
Developmental disorder associated with increased cellular nucleotidase activityT Page
Department of Neurosciences, University of California at San Diego, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 94:11601-6. 1997..These observations suggest that increased nucleotide catabolism is related to the symptoms of these patients, and that the effects of this increased catabolism are reversed by administration of uridine...- CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiencyPaul J Isackson
Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA
Mol Genet Metab 94:422-7. 2008..In addition, based on currently available structural, biochemical and clinical data, we have classified all 64 known disease-causing mutations into groups with different predicted phenotypes depending on their CPT2 allelic counterparts... - Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiencyK Sege-Peterson
Department of Pediatrics, University of California, San Diego, La Jolla 92093
Hum Mol Genet 1:427-32. 1992.... - Variable expression of HPRT deficiency in 5 members of a family with the same mutationUros Hladnik
Division of Biochemical Genetics, Department of Pediatrics, University of California San Diego, 9500 Gilman Dr, La Jolla, CA 92093, USA
Arch Neurol 65:1240-3. 2008..There are variant HPRT enzymes with some activity, and milder clinical expression, but the rule has been that each mutation produces a stereotypical pattern of clinical disease... - Fatal initial adult-onset presentation of urea cycle defectJamie Lien
Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093 0830, USA
Arch Neurol 64:1777-9. 2007..Mutations that lead to later-onset presentations may lead to life-threatening disease and may be unrecognized, particularly when the first clinical disease occurs in adulthood... - Lesch-Nyhan variant syndrome: variable presentation in 3 affected family membersKyriakie Sarafoglou
Department of Pediatrics, University of Minnesota, MMC 8404, 13 124 PWB, 516 Delaware St SE, Minneapolis, MN 55455, USA
Arch Neurol 67:761-4. 2010..With rare exception, each mutation produces a stereotypical pattern of clinical disease; onset of neurologic symptoms occurs during infancy and is thought to be nonprogressive... - Domino liver transplantation in maple syrup urine diseaseAjai Khanna
Department of Surgery, University of California, San Diego, La Jolla, CA 92093-0830, USA
Liver Transpl 12:876-82. 2006..Livers from patients with MSUD may be considered as domino grafts for patients who might otherwise not survive until transplantation... - Lesch-Nyhan disease in a female with a clinically normal monozygotic twinLaura De Gregorio
University of California San Diego, La Jolla, CA 92093, USA
Mol Genet Metab 85:70-7. 2005..As in many other reported cases of X-linked diseases, the discordant phenotype of the two monozygous twin sisters suggests that the process responsible for monozygotic twinning can trigger skewed X inactivation... - Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuriaKhue Vu Nguyen
Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA
Mol Genet Metab 102:218-21. 2011..46G>E), (IVS7-1G>A splice site mutation), and four novel MCCB (exon 11: c.1065A>T; p.355L>F), (exon 15: c.1430A>G; p.477Q>R), (exon 16: c.1549G>A; p.517G>R), (exon 16: c.1559A>C; p.520Y>S) mutant alleles from five MCC-deficient patients... - Pyruvate carboxylase deficiency--insights from liver transplantationWilliam L Nyhan
Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA
Mol Genet Metab 77:143-9. 2002..Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation... - 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detectionK Narisawa
Department of Pediatrics, University of California, San Diego, La Jolla
Clin Chim Acta 184:57-64. 1989.... - Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detectionChie Ohdoi
Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Kahoku-gun, Ishikawa 920-0293, Japan
J Chromatogr B Analyt Technol Biomed Life Sci 792:123-30. 2003..Abnormality in the levels of hypoxanthine and xanthine was quite prominent and n, the number of standard deviations above the normal mean, combined for the two, was above 12.9... - Behavioral aspects of Lesch-Nyhan disease and its variantsDavid J Schretlen
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 7218, USA
Dev Med Child Neurol 47:673-7. 2005..Although patients with LNV typically do not self-injure or display severe aggression, attention problems are common and a few patients demonstrate other behavioral anomalies... - Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometrySusen Hartmann
Division of Metabolic Diseases, Department of General Pediatrics, University Children s Hospital Heidelberg, Heidelberg, Germany
Clin Chem 52:1127-37. 2006..We present a method that allows comprehensive, sensitive, and specific diagnosis of the entire spectrum of abnormalities in purine and pyrimidine metabolism in 1 analytical run... - Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell linesCibele S Pinto
Department of Pharmacology and Toxicology, University of Kansas, Lawrence, Kansas, USA
J Neurochem 93:1579-86. 2005..Thus, future studies on biochemical changes in LND should be conducted in parallel in several HPRT-deficient systems...