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Biochemical basis of hypoxanthine‐guanine phosphoribosyltransferase deficiency in nine families
Author(s) -
Keough D. T.,
Gordon R. B.,
Jersey J.,
Emmerson B. T.
Publication year - 1988
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800364
Subject(s) - hypoxanthine guanine phosphoribosyltransferase , hypoxanthine , hypoxanthine phosphoribosyltransferase , lesch–nyhan syndrome , phosphoribosyltransferase , lymphoblast , guanine , biochemistry , chemistry , microbiology and biotechnology , medicine , enzyme , biology , endocrinology , genetics , nucleotide , cell culture , gene , mutant
Summary The concentration of hypoxanthine‐guanine phosphoribosyltransferase (HPRT) cross‐reacting material (CRM) was determined in haemolysates and/or lymphoblast lysates from nine patients with complete or partial deficiency of HPRT activity. Two of the patients had the fully developed Lesch‐Nyhan syndrome and although they had undetectable HPRT activity, small amounts of CRM were found. HPRT‐specific mRNA was not detected in lymphoblast lysates from one of these patients, while lysates from the other had a much reduced concentration. Samples from three patients with <0.1% of normal HPRT activity but with minor or no neurological manifestations were also found to contain small amounts of CRM. The other four patients whose HPRT activities ranged from 3 to 10% of normal were found to have CRM concentrations which varied from 26 to 100% of normal. In one patient with a partial deficiency the K m for 5‐phospho‐α‐ d ‐ribosyl‐1‐pyrophosphate was five times normal.