Malonyl-CoA Decarboxylase Deficiency
OMIM number: 248360
Comments closing date: 09/10/2026
Malonyl-CoA decarboxylase (MLYCD) deficiency is a rare, autosomal recessive inherited metabolic
defect due to the deficiency of malonyl-CoA decarboxylase. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhoea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy.
