Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
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.
Keough
D T
DT
Department of Medicine, University of Queensland, Princess Alexandra Hospital, Woolloongabba, Australia.
Gordon
R B
RB
de Jersey
J
J
Emmerson
B T
BT
D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000378:metabolism*; D007457:Iodine Radioisotopes; D007700:Kinetics; D007926:Lesch-Nyhan Syndrome / Q000378:metabolism*; D011863:Radioimmunoassay
D007457:Iodine Radioisotopes; D007041:Hypoxanthine Phosphoribosyltransferase