Combined Malonic and Methylmalonic Aciduria (ACSF3)

Combined malonic and methylmalonic aciduria is an autosomal recessive, pan-ethnic disorder caused by pathogenic variants in the gene ACSF3. Onset has been reported to occur in infancy or childhood in some patients, and in adulthood in others. In patients with the early-onset disease, clinical features include failure to thrive, hypoglycemia, seizures, dystonia and coma. Adult-onset cases present with neurologic manifestations, including psychiatric issues, seizures, and cognitive decline or memory problems. No life expectancy information is currently available. Currently, it is not possible to predict the age of onset or severity of disease based on genotype.

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

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