Abstract
ABSTRACT. This study investigated the hematologic abnormalities of an infant with propionic acidemia and reversible pancytopenia. Light and electron microscopy of her bone marrow revealed severely disturbed cellular morphology with trilineage dysmyelopoiesis, hemophagocytosis, and numerous multinucleated histiocytes and megakaryocytes. The effects of her serum and of organic acids associated with propionic acidemia were studied on hematopoiesis in vitro. Mouse erythroid (CFU-E) and granulocyte- monocyte colonies (CFU-GM) were assayed by fibrin clot technique; human CFU-GM were grown in agar culture. The infant's serum reduced mouse CFU-E and CFUGM by 43 and 32%, respectively, compared with normal human sera, but had no effect on human CFU-GM in our culture system. Buffered propionic acid caused concentration- dependent inhibition of mouse CFU-E and human CFU-GM over a range reported in sera of acutely ill infants with propionic acidemia. Neither cell viability nor subsequent colony formation was diminished by preincubation of bone marrow cells with propionic acid for 48 h. The three other organic acids studied, tiglic acid, 3-OH propionate, and glycine, did not inhibit growth of mouse CFUE, CFU-GM, or human CFU-GM, and glycine significantly enhanced formation of the latter. Evaluation of the infant's hematologic abnormalities suggests that inhibition of bone marrow proliferation and maturation and, perhaps, shortened red blood cell survival were responsible for her pancytopenia. The studies performed in vitro implicate propionic acid in this hematopoietic dysfunction.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Stork, L., Ambruso, D., Wallner, S. et al. Pancytopenia in Propionic Acidemia: Hematologic Evaluation and Studies of Hematopoiesis in Vitro. Pediatr Res 20, 783–788 (1986). https://doi.org/10.1203/00006450-198608000-00017
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1203/00006450-198608000-00017
This article is cited by
-
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance
Orphanet Journal of Rare Diseases (2021)
-
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Orphanet Journal of Rare Diseases (2014)
-
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Orphanet Journal of Rare Diseases (2013)
-
Transcobalamin (TC) deficiency—Potential cause of bone marrow failure in childhood
Journal of Inherited Metabolic Disease (2008)
-
Haematological findings in children with inborn errors of metabolism
Journal of Inherited Metabolic Disease (2006)