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Anton and T. Objetivos: este trabajo recoge el diagnostico de la deficiencia de HPRT, estudio del metabolismo de las purinas, deteccion de portadoras y diagnostico prenatal en 16 familias espanolas. Conclusiones: los resultados de este estudio indican que la deficiencia de HPRT promueven un aumento de la degradacion de nucleotidos purinicos que conduce a un incremento de la concentracion plasmatica y urinaria de hipoxantina, xantina y acido urico cuya magnitud no esta relacionada con la gravedad clinica.
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Estudio de 12 casos. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Jones , William L. Nyhan Biology, Medicine Human molecular genetics Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis.
Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyl-transferase deficiency: evidence for an increased contribution of purine biosynthesis de novo. Mateos , Irving H. Fox Chemistry, Medicine Metabolism: clinical and experimental Richard A. Gibbs , Phi Nga Nguyen , L.
Renal excretion of hypoxanthine and xanthine in primary gout. Ramos Medicine The American journal of medicine Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. Fox Chemistry, Medicine The Journal of clinical investigation Allopurinol in renal failure and the tumour lysis syndrome. Davies Medicine Clinica chimica acta; international journal of clinical chemistry Related Papers.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Lesch-Nyhan syndrome LNS is the most severe form of hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency see this term , a hereditary disorder of purine metabolism, and is associated with uric acid overproduction UAO , neurological troubles, and behavioral problems. Males are generally affected and heterozygous females are carriers usually asymptomatic.
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism
We'd like to understand how you use our websites in order to improve them. Register your interest. Lesch-Nyhan syndrome was first described over thirty years ago. The original patient was a 4-year-old boy with neurological abnormalities as well as haematuria. Crystals in his urine were identified and confirmed to be uric acid. The massive excretion of this purine led to metabolic studies using isotopically labelled uric acid to study turnover rates. Clues to the site of the enzyme defect resulted from studies with the immunosuppressive agent azathioprine, which normally causes uric acid concentrations to fall in blood and urine but was without effect in a Lesch-Nyhan patient.