Propionic acidaemia presenting with pancytopaenia in infancy

J Inherit Metab Dis. 1980;2(3):65-9. doi: 10.1007/BF01801721.

Abstract

A 2-month-old infant presented with vomiting, lethargy and pancytopaenia. She was found to have propionic acidaemia, and the activity of propionyl-CoA carboxylase in cultured fibroblasts was defective (McKusick 23200). Abnormal amounts of glycine, 3-hydroxypropionate, methylcitrate, tiglyglycine, propionylglycine, 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, 3-oxovalerate and 3-hydroxyvalerate were found in body fluids. It appears that the organic acidaemia leads to an inhibition in the maturation of cells in the bone marrow.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acids / metabolism
  • Carboxy-Lyases / deficiency
  • Cells, Cultured
  • Child, Preschool
  • Clinical Enzyme Tests
  • Clinical Laboratory Techniques
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Infant
  • Male
  • Methylmalonyl-CoA Decarboxylase
  • Pancytopenia / diagnosis
  • Pancytopenia / etiology*
  • Pregnancy
  • Propionates / blood*
  • Propionates / deficiency

Substances

  • Amino Acids
  • Propionates
  • Carboxy-Lyases
  • Methylmalonyl-CoA Decarboxylase