Abstract
Hematologic abnormalities have been associated with some inborn errors of metabolism, including maple syrup urine disease and methylmalonic acidemia. We have evaluated two neonates with isovaleric acidemia. Both patients had pancytopenia during the first week of life when serum isovaleric acid levels were in excess of 50 mg/dl. Hemoglobin, granulocyte and platelet counts decreased further, reaching nadirs by the 2nd week of life of 7.8 and 8.0 g/dl, 26 and 150 cells/mm3, and 8,000 and 50,000 platelets/mm3, respectively, even as serum isovaleric acid levels were decreasing in response to therapy. Recovery was gradual, requiring 2 weeks for restoration of normal values. The granulocytes were the last to return to normal. A striking monocytosis (40% and 60%) was noted during the recovery phase in both infants. One infant also had an eosinophilia of 19%. Bone marrow examination in one patient revealed large numbers of immature mononuclear cells, with small numbers of early erythroid and myeloid precursors. Bone marrow culture showed an increased number of granulocytic colony forming units. Survival of random donor platelets was normal. These findings suggest that the hematologic abnormalities of isovaleric acidemia probably are referable to an inhibition of normal cell maturation rather than a depletion of marrow precursors or increased destruction of mature cells.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kelleher, J., Yudkoff, M., Conn, R. et al. 618 HEMATOLOGIC FINDINGS IN ISOVALERIC ACIDEMIA. Pediatr Res 12 (Suppl 4), 466 (1978). https://doi.org/10.1203/00006450-197804001-00623
Issue Date:
DOI: https://doi.org/10.1203/00006450-197804001-00623
This article is cited by
-
Propionic acidaemia presenting with pancytopaenia in infancy
Journal of Inherited Metabolic Disease (1979)