PEDIATRICS Vol. 65 No. 5 May 1980, pp. 1023-1027
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The Pancytopenia of Isovaleric Acidemia

John F. Kelleher Jr MD1, Marc Yudkoff MD1, Raymond Hutchinson MD1, Charles S. August MD1, and Robert M. Cohn MD1

1 Divisions of Hematology and Metabolism, Children's Hospital of Philadelphia, and the Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia

Severe pancytopenia developed in two infants with isovaleric acidemia. Previous reports indicate these hematologic abnormalities are a leading cause of death in affected infants. Our findings suggest that the pancytopenia may be due to arrested maturation of hematopoietic precursors. Prompt transfusion of appropriate blood components prevented complications due to the hematologic abnormalities.

Submitted on May 14, 1979
Accepted on August 22, 1979