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GTR Home > Conditions/Phenotypes > Deficiency of malonyl-CoA decarboxylase

Deficiency of malonyl-CoA decarboxylase

Synonyms
MCD deficiency; Malonic acidemia; Malonic aciduria; Malonyl-CoA Decarboxylase Deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy (Sweetman and Williams, 2001). [from OMIM]

Available tests

50 tests are in the database for this condition.

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Clinical tests (50 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCD, MLYCD
    Summary: malonyl-CoA decarboxylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3-DC Acylcarnitine, Malonic Acidemia, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Malonic Acidemia: Elevated C3-DC, 2022

Molecular resources

Consumer resources

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