6-phosphogluconate dehydrogenase deficiency

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.

Disease data

Classification

Disease

ORPHA code

99135

OMIM code

619199

ICD10 code

D55.1

ICD11 code

*Soruce