title: Haemolytic anaemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency: demonstration of two new biochemical variants, G6PD Hamm and G6PD Tarsus.
abstract: Two new variants of erythrocytic glucose-6-phosphate dehydrogenase have been found in one German patient and in another patient of Turkish origin. The enzymes were partially purified 165-fold and 111-fold respectively. Both revealed reduced activity, increased thermolability and a pH-optimum in the alkaline region (8.5 and 9.0). One variant (G6PD Hamm) had a low Km-value for glucose-6-phosphate, the other (G6PD Tarsus) exhibited an increased affinity for glucose-6-phosphate and a reduced affinity for NADP+. This enzyme showed an increased inhibitor constant for NADPH with respect to NADP+. Electrophoretic mobility was normal in both cases. 2-Desoxy glucose-6-phosphate was utilized to an increased rate by both variant enzymes (46% and 33%). Also galactose-6-phosphate (29% and 25%) and deamino-NADP+ (230% and 261%) gave increased utilization rates. The mothers of both patients could be identified as heterozygous for this enzyme deficiency.
mesh_terms: D000293:Adolescent; D000743:Anemia, Hemolytic / Q000209:etiology*; D002675:Child, Preschool; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male
chemical_list: D005954:Glucosephosphate Dehydrogenase