6-phosphogluconate dehydrogenase deficiency
ORPHA:99135· ICD-10 D55.1
Definition
A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.