Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0392525 (
nephrolithiasis
)
2,669
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The hypoxanthine-guanine phosphoribosyltransferase deficiency is an inborn error of purine metabolism, linked to the X chromosome. The clinical phenotypes associated with HPRT deficiency varied according to the level of enzyme deficiency, with a large spectrum of neurologic features like self-injurious behaviour in patients with complete deficiency. We report a 20-year-old man who had asymmetric polyarthritis, tophi, hyperuricemia,
nephrolithiasis
and mild neurologic symptoms with undetectable levels of HPRT activity in lysed erythrocytes. The genetic study identified the c.143G>A mutation in exon 3, GAA
CGT
(CTT>GAA CAT CTT (48arg>his). The presence of gouty arthropathy and chronic hyperuricemia in a young patient with neurological symptoms, suggests HPRT deficiency for which it is necessary its enzyme and molecular determination.
...
PMID:Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation. 2299 96
