Malonyl-CoA Decarboxylase Deficiency (MLYCD)

Malonyl-CoA decarboxylase deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene MLYCD. This disorder has an onset in early childhood with symptoms including hypoglycaemia, seizures and/or other neurological features, vomiting, and mild metabolic acidosis. Individuals with this disorder are generally weak in muscle tone, have failure to thrive, and may have developmental delay. Malonyl-CoA decarboxylase deficiency can also lead to heart conditions such as hypertrophic cardiomyopathy, which should be monitored closely. Life expectancy for this disorder is unknown.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):