Catalog

Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency

No MMS code

Link to WHO Definition

Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency – http://id.who.int/icd/entity/1578866329

Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency (malonic aciduria) is the presence of dilated cardiomyopathy in association with a fatty acid oxidation disorder due to a mutation of the MLYCD gene, located on chromosome 16q24. This autosomal recessive condition is additionally characterised by developmental delay, hypotonia, seizures, hypoglycaemia, metabolic acidosis and diarrhoea.