[Clinico-biochemical characteristics of patients with congenital glucose-6-phosphate dehydrogenase deficiency in erythrocytes].
The authors submit a clinical and biochemical investigation of five families with a congenital glucose-6-phosphate dehydrogenase red cell deficiency. Congenital nonspherocytic haemolytic anaemia was detected only in one hemizygous carrier, in four there was latent haemolysis with intermittent haemolytic crises and hyperbilirubinaemia. In 14 relatives carriership was revealed without clinical manifestations. The authors give a biochemical characteristic of kinetic properties of enzymatic variants according to WHO instructions (enzyme activity, thermal stability, pH stability and other kinetic constant) and emphasize the need to improve the diagnosis.
Sakalová
A
A
Jacobasch
G
G
Brabec
V
V
D000293:Adolescent; D000328:Adult; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged
Klinicko-biochemická charakteristika niektorých prípadov s vrodeným deficitom glukóza-6-fosfátdehydrogenázy v erytrocytoch.