[Clinicogenetic studies of a patient with the Corinth type of glucose-6-phosphate dehydrogenase deficiency].
A patient with repeated hemolytic episodes since early childhood of undistinguished etiology is described. The patient was three times admitted to hospital--infectious and internal diseases clinics on the occasion of the manifested hemolytic-icteric syndrome. The clinical, biochemical, genealogical and other investigations carried out, confirmed the presence of G-6-PD deficiency. That genetic effect was found in 6 of all 17 subjects, examined of the family. The patient had inherited the genetic defect from his mother. The studies in accordance with WHO programme, revealed that a G-6-PD, type Corinth variant, was concerned. The male-patient, presented by us is of particular interest in a clinical and differentiation diagnostic aspect.
D000328:Adult; D004415:Dyspepsia / Q000473:pathology; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007565:Jaundice / Q000473:pathology; D008297:Male; D009154:Mutation; D010375:Pedigree
Kliniko-genetichni prouchvaniia pri bolen s gliukozo-6-fosfat dekhidrogenazen defitsit tip Korint.