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: EC:2.4.2.8 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,527
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Subjects with the Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency with self-mutilation) exhibit an apparently unique pattern of adrenergic dysfunction characterized by elevated plasma
dopamine beta-hydroxylase
activity and an absence of pressor response to acute sympathetic stimulation. Patients with a partial deficiency of
hypoxanthine-guanine phosphoribosyltransferase
without self-mutilation do not exhibit these abnormalities of adrenergic function.
...
PMID:Lesch-Nyhan syndrome: evidence for abnormal adrenergic function. 446 89
