William L Nyhan

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint Disorders of purine and pyrimidine metabolism
    William 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
  2. doi request reprint Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency
    W 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
  3. doi request reprint Lesch-Nyhan disease
    W L Nyhan
    Department of Pediatrics, University of California, San Diego, La Jolla, California 92093, USA
    Nucleosides Nucleotides Nucleic Acids 27:559-63. 2008
  4. ncbi request reprint Lesch-Nyhan Disease
    William L Nyhan
    Department of Pediatrics University of California San Diego La Jolla CA 92093 0830, USA
    J Hist Neurosci 14:1-10. 2005
  5. ncbi request reprint Inherited hyperuricemic disorders
    William L Nyhan
    Departmen tof Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA
    Contrib Nephrol 147:22-34. 2005
  6. pmc Dopamine function in Lesch-Nyhan disease
    W L Nyhan
    Department of Pediatrics, University of California, San Diego, California, USA
    Environ Health Perspect 108:409-11. 2000
  7. ncbi request reprint Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
    William L Nyhan
    UCSD Pediatrics 0830, 9500 Gilman Drive, La Jolla, CA 92093 0830, USA
    Eur J Pediatr 161:377-9. 2002
  8. doi request reprint Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members
    Khue 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
  9. doi request reprint Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA
    Khue 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
  10. doi request reprint Novel mutations in the human HPRT gene
    Khue 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

Collaborators

Detail Information

Publications31

  1. ncbi request reprint Disorders of purine and pyrimidine metabolism
    William 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...
  2. doi request reprint Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency
    W 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...
  3. doi request reprint Lesch-Nyhan disease
    W 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...
  4. ncbi request reprint Lesch-Nyhan Disease
    William 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...
  5. ncbi request reprint Inherited hyperuricemic disorders
    William 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...
  6. pmc Dopamine function in Lesch-Nyhan disease
    W 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...
  7. ncbi request reprint Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
    William L Nyhan
    UCSD Pediatrics 0830, 9500 Gilman Drive, La Jolla, CA 92093 0830, USA
    Eur J Pediatr 161:377-9. 2002
    ..Patients have been considered candidates for hepatic transplantation and experience has been that the procedure eliminates the life-threatening episodes of ketoacidosis that characterize this disease...
  8. doi request reprint Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members
    Khue 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...
  9. doi request reprint Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA
    Khue 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
    ....
  10. doi request reprint Novel mutations in the human HPRT gene
    Khue 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...
  11. ncbi request reprint Prenatal diagnosis of Lesch-Nyhan disease
    William 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
  12. ncbi request reprint Chronic treatment of mitochondrial disease patients with dichloroacetate
    Bruce A Barshop
    Department of Pediatrics, University of California San Diego, La Jolla, CA 92093 0830, USA
    Mol Genet Metab 83:138-49. 2004
    ....
  13. ncbi request reprint Sensitive assay for mitochondrial DNA polymerase gamma
    R 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...
  14. ncbi request reprint Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment
    L 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...
  15. ncbi request reprint Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency
    L 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...
  16. pmc Developmental disorder associated with increased cellular nucleotidase activity
    T 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...
  17. doi request reprint CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
    Paul 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...
  18. ncbi request reprint Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency
    K Sege-Peterson
    Department of Pediatrics, University of California, San Diego, La Jolla 92093
    Hum Mol Genet 1:427-32. 1992
    ....
  19. doi request reprint Identification of novel mutations in the human HPRT gene
    Khue Vu Nguyen
    Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, California 92103 8467, USA
    Nucleosides Nucleotides Nucleic Acids 32:155-60. 2013
    ..We report three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three LNS affected male patients...
  20. ncbi request reprint Fatal initial adult-onset presentation of urea cycle defect
    Jamie 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...
  21. doi request reprint Variable expression of HPRT deficiency in 5 members of a family with the same mutation
    Uros 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...
  22. doi request reprint Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members
    Kyriakie 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...
  23. ncbi request reprint Lesch-Nyhan disease in a female with a clinically normal monozygotic twin
    Laura 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...
  24. ncbi request reprint Domino liver transplantation in maple syrup urine disease
    Ajai 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...
  25. doi request reprint Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria
    Khue 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...
  26. ncbi request reprint Pyruvate carboxylase deficiency--insights from liver transplantation
    William 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...
  27. ncbi request reprint 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection
    K Narisawa
    Department of Pediatrics, University of California, San Diego, La Jolla
    Clin Chim Acta 184:57-64. 1989
    ....
  28. ncbi request reprint Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection
    Chie 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...
  29. ncbi request reprint Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry
    Susen 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...
  30. ncbi request reprint Behavioral aspects of Lesch-Nyhan disease and its variants
    David 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...
  31. ncbi request reprint Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines
    Cibele 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...