Galactosaemia in three Rhodesian infants.
The clinically relevant types of genetic galactosaemia involve deficiency of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) or galactokinase (EC 2.7.1.6). Specific diagnosis is made by quantitative assay of these two enzymes. Seven Black patients were referred from Harare Hospital, Rhodesia, with features suggestive of galactosaemia. Enzyme assay identified classic homozygous transferase deficiency in 3 of these patients. The incidence in this population was calculated to be 1:52 000.
D004796:Clinical Enzyme Tests; D005260:Female; D005693:Galactosemias / Q000175:diagnosis*; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008297:Male; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood / Q000235:genetics
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase