Propionic acidaemia presenting with pancytopaenia in infancy

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

doi:10.1007/BF01801721

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, 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 language	English (US)
Pages (from-to)	65-69
Number of pages	5
Journal	Journal of Inherited Metabolic Disease
Volume	2
Issue number	3
DOIs	https://doi.org/10.1007/BF01801721
State	Published - Sep 1979
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Propionic acidaemia presenting with pancytopaenia in infancy",

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.",

author = "L. Sweetman and Nyhan, {W. L.} and J. Cravens and Y. Zomer and Plunket, {D. C.}",

year = "1979",

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AU - Sweetman, L.

AU - Nyhan, W. L.

AU - Cravens, J.

AU - Zomer, Y.

AU - Plunket, D. C.

PY - 1979/9

Y1 - 1979/9

N2 - 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.

AB - 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.

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Propionic acidaemia presenting with pancytopaenia in infancy

Abstract

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