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Malonyl coenzyme A decarboxylase deficiency

G B MacPhee1, R W Logan, J S Mitchell

  • 1Department of Biochemistry, Royal Hospital for Sick Children, Yorkhill, Glasgow.

Archives of Disease in Childhood
|October 1, 1993
PubMed
Summary

Two new cases of malonyl coenzyme A (CoA) decarboxylase deficiency, a rare metabolic disorder, were identified in Scottish children. This expands the known global cases beyond the initial Australian reports, highlighting the condition

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Malonyl-CoA decarboxylase (MCD) deficiency is a rare inherited metabolic disorder.
  • Previously, only two cases were reported globally, both in Australian children.

Observation:

  • Two new cases of MCD deficiency were identified in Scottish children from consanguinous parents.
  • The affected children presented with vomiting, febrile convulsions, and developmental delay.

Findings:

  • Demonstration of malonic aciduria and significantly reduced malonyl-CoA decarboxylase activity.
  • Gas chromatography-mass spectrometry revealed characteristic urinary organic acid profiles.
  • Comparison of clinical and biochemical data between Scottish and Australian patients.

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Implications:

  • This study expands the known geographical and genetic spectrum of malonyl-CoA decarboxylase deficiency.
  • Further research is needed to understand the full clinical variability and long-term outcomes.
  • Highlights the importance of considering rare metabolic disorders in infants with unexplained neurological symptoms.