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PubMed · 6796762

Propionic acidaemia presenting with pancytopaenia in infancy.

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

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Amino Acid Metabolism, Inborn ErrorsAmino AcidsCarboxy-LyasesCells, CulturedChild, PreschoolClinical Enzyme TestsClinical Laboratory TechniquesFemaleFibroblastsHumansInfantMaleMethylmalonyl-CoA DecarboxylasePancytopeniaPregnancyPropionatesCase ReportsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.

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L Sweetman, W L Nyhan, J Cravens, Y Zomer, D C Plunket. 1980. Propionic acidaemia presenting with pancytopaenia in infancy.. https://doi.org/10.1007/bf01801721

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