Propionic acidaemia presenting with pancytopaenia in infancy

L. Sweetman, W. L. Nyhan, J. Cravens, Y. Zomer, D. C. Plunket

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

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, tiglylglycine, 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.

Original languageEnglish (US)
Pages (from-to)65-69
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume2
Issue number3
DOIs
StatePublished - Sep 1979
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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