Erythrocyte pyruvate kinase deficiency. A case of severe congenital hemolytic anemia.
Although it occurs rarely, erythrocyte pyruvate kinase deficiency is a cause of neonatal jaundice and anemia across many ethnic and geographic groups. In this report of a Missouri case, an infant with this condition was also found to have Pelger-Huet leukocyte anomaly.
O'Connor
T A
TA
Monzon
C M
CM
Clark
F I
FI
D000745:Anemia, Hemolytic, Congenital / Q000209:etiology*; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010381:Pelger-Huet Anomaly / Q000150:complications* / Q000151:congenital; D011770:Pyruvate Kinase / Q000172:deficiency*; D015323:Pyruvate Metabolism, Inborn Errors / Q000150:complications*
D011770:Pyruvate Kinase