Partial Hypoxanthine Phosphoribosyltransferase Deficiency: Unrecognized Until Adult Ages
نویسندگان
چکیده
منابع مشابه
Partial hypoxanthine phosphoribosyltransferase deficiency: unrecognized until adult ages.
Hypoxanthine phosphoribosyltransferase (HPRT) is a purine metabolic enzymewhich converts hypoxanthineor guanine into IMP or GMP.One of the interesting viewpoints of HPRT deficiency is that there are two types of clinical features caused by the genetic enzyme deficiency ( 1 and 2 forreview). Thus, the severe type of the disease designated Lesch-Nyhan' s syndrome is associated with hyperuricemia ...
متن کاملPartial deficiency of hypoxanthine-guanine phosphoribosyltransferase manifesting as acute renal damage.
A 32-year-old man who had had frequent gouty arthritis over the past 17 years, was admitted for acute renal failure. Acute renal failure was improved rapidly after medication was resumed and the patient was sufficiently hydrated. The hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity in the patient had been reduced to about 30% of the normal control. Therefore we considered that thi...
متن کاملMechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Certain gouty subjects with excessive de novo purine synthesis are deficient in hypoxanthineguanine phosphoribosyltransferase (HG-PRTase [EC 2.4.2.8]). The mechanism of accelerated uric acid formation in these patients was explored by measuring the incorporation of glycine-(14)C into various urinary purine bases of normal and enzyme-deficient subjects during treatment with the xanthine oxidase ...
متن کاملHypoxanthine-Guanine Phosphoribosyltransferase Variant
A B S T R A C T We have previously described a 14-yrold boy with hyperuricemia, renal failure, and accelerated purine production resistant in vivo and in vitro to purine analogs. This patient demonstrated normal red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT) heat stability, electrophoresis at high pH, and activity at standard substrate levels. In the present report an abnormal H...
متن کاملHuman hypoxanthine-guanine phosphoribosyltransferase.
A mutant form of human hypoxanthine-guanine phosphoribosyltransferase (HPRTToronto) was isolated from erythrocytes of a male patient with gout due to a partial deficiency of enzyme activity. The tryptic peptides of HPRTToronto were mapped by reverse-phase high pressure liquid chromatography in an attempt to define the precise abnormality in its primary structure. Sequence analysis of the single...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 1998
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.37.905