Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency (Q95443)

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.