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


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

34 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

  • Short stature
  • Lactic acidosis
  • Cognitive impairment
  • Seizure
  • Constipation
  • Diarrhea
  • Vomiting
  • Muscular hypotonia
  • Global developmental delay
  • Pachygyria
  • Abnormality of the cardiovascular system
  • Hypertrophic cardiomyopathy
  • Metabolic acidosis
  • Hypoglycemia
  • Ketosis
  • Abdominal pain
  • Chronic constipation
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