Viral hepatitis with extreme hyperbilirubinemia, massive hemolysis and encephalopathy in a patient with a new G6PD variant.
Extreme hyperbilirubinemia, massive hemolysis and hepatic encephalopathy were reported in a G6PD-deficient patient with viral hepatitis. Investigation of the G6PD properties revealed that this patient's enzyme represented a hitherto undescribed variant (Bnei Brak), characterized by heat stability and a unique triphasic pH-related enzyme activity curve. It is possible that the marked hemolytic process in this patient was enhanced by a further decrease in the activity of the already deficient enzyme during acidosis.
D000293:Adolescent; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006461:Hemolysis; D006501:Hepatic Encephalopathy / Q000150:complications* / Q000209:etiology; D006525:Hepatitis, Viral, Human / Q000150:complications*; D006801:Humans; D006932:Hyperbilirubinemia / Q000150:complications* / Q000209:etiology; D008297:Male
D005954:Glucosephosphate Dehydrogenase