A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy

S. Yano; L. Sweetman; D. R. Thorburn; S. Mofidi; J. C. Williams

doi:10.1007/s004310050619

A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy

S. Yano, L. Sweetman, D. R. Thorburn, S. Mofidi, J. C. Williams

Research output: Contribution to journal › Article › peer-review

46 Scopus citations

Abstract

A new case of mitochondrial malonyl coenzyme A decarboxylase deficiency is described. The patient presented with an initial episode of metabolic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of age for developmental delay revealed a prominent elevation of malonic acid in urine. Malonyl carnitine was also elevated. The activity of malonyl CoA decarboxylase in cultured fibroblasts was 7% of normal. Conclusion: Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.

Original language	English (US)
Pages (from-to)	382-383
Number of pages	2
Journal	European Journal of Pediatrics
Volume	156
Issue number	5
DOIs	https://doi.org/10.1007/s004310050619
State	Published - 1997
Externally published	Yes

Keywords

cardiomyopathy
inborn errors of metabolism
malonyl coenzyme A decarboxylase deficiency

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1007/s004310050619

Cite this

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title = "A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy",

abstract = "A new case of mitochondrial malonyl coenzyme A decarboxylase deficiency is described. The patient presented with an initial episode of metabolic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of age for developmental delay revealed a prominent elevation of malonic acid in urine. Malonyl carnitine was also elevated. The activity of malonyl CoA decarboxylase in cultured fibroblasts was 7% of normal. Conclusion: Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.",

keywords = "cardiomyopathy, inborn errors of metabolism, malonyl coenzyme A decarboxylase deficiency",

author = "S. Yano and L. Sweetman and Thorburn, {D. R.} and S. Mofidi and Williams, {J. C.}",

note = "Funding Information: Acknowledgement We thank E. Tsotsis and D. M. Kirby for technical assistance with enzyme assays. Supported in part by a Centre Block Grant, National Health and Medical Research Council of Australia.",

year = "1997",

doi = "10.1007/s004310050619",

language = "English (US)",

volume = "156",

pages = "382--383",

journal = "European Journal of Pediatrics",

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number = "5",

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TY - JOUR

T1 - A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy

AU - Yano, S.

AU - Sweetman, L.

AU - Thorburn, D. R.

AU - Mofidi, S.

AU - Williams, J. C.

N1 - Funding Information: Acknowledgement We thank E. Tsotsis and D. M. Kirby for technical assistance with enzyme assays. Supported in part by a Centre Block Grant, National Health and Medical Research Council of Australia.

PY - 1997

Y1 - 1997

N2 - A new case of mitochondrial malonyl coenzyme A decarboxylase deficiency is described. The patient presented with an initial episode of metabolic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of age for developmental delay revealed a prominent elevation of malonic acid in urine. Malonyl carnitine was also elevated. The activity of malonyl CoA decarboxylase in cultured fibroblasts was 7% of normal. Conclusion: Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.

AB - A new case of mitochondrial malonyl coenzyme A decarboxylase deficiency is described. The patient presented with an initial episode of metabolic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of age for developmental delay revealed a prominent elevation of malonic acid in urine. Malonyl carnitine was also elevated. The activity of malonyl CoA decarboxylase in cultured fibroblasts was 7% of normal. Conclusion: Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.

KW - cardiomyopathy

KW - inborn errors of metabolism

KW - malonyl coenzyme A decarboxylase deficiency

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JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

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A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy

Abstract

Keywords

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