Catalog

Malonic aciduria

No MMS code

Link to WHO Definition

Malonic aciduria – http://id.who.int/icd/entity/1373430210

Malonic aciduria is an organic aciduria caused by deficiency of malonyl-CoA decarboxylase (MCD) that usually presents in early childhood with variable manifestations including developmental delay, hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy and diarrhoea.