Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
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Keough DT, Gordon RB, de Jersey J, Emmerson BT
Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
J Inherit Metab Dis. 1988;11(3):229-38.
- PubMed ID
- 3148064 [ View in PubMed]
- Abstract
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 less than 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 Km for 5-phospho-alpha-D-ribosyl-1-pyrophosphate was five times normal.