[Neo-natal hyperbilirubinemia and G-6-PD Ankara deficiency, a new enzymatic variant discovered in a Turkish family (author's transl)].
A G-6-PD deficiency has been found in a Turkish male premature with neo-natal hyperbilirubinemia. His parents have no hemolytic antecedents. The propositus has a severe enzym deficiency in erythrocytes, a very decreased activity in leukocytes and platelets. His mother was heterozygous for this variant and his father had no abnormality. The deficient enzym was a new variant: G-6-PD Ankara. The main characteristics of this variant were the following: 1 degree severe enzym deficiency in erythrocytes (8% of normal); 2 degrees fast starch gel electrophoretic mobility (110% of normal); 3 degrees enzym instability in vivo and in vitro; 4 degrees increased KiNADPH; 5 degrees decreased molecular specific activity (58% of normal). Only variant B(-) G-6-PD deficiency have hitherto been described in Turkey. In contrast, G-6-PD Ankara is a fast variant and is unlike any other known variants.
D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005602:France; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000235:genetics; D006801:Humans; D006932:Hyperbilirubinemia / Q000209:etiology; D007231:Infant, Newborn; D007234:Infant, Premature; D007567:Jaundice, Neonatal / Q000150:complications*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014421:Turkey / Q000208:ethnology
Ictère néo-natal et déficit en G-6-PD Ankara, une nouvelle variante enzymatique découverte dans une famille turque