Catalog

Methylmalonate semialdehyde dehydrogenase deficiency

No MMS code

Link to WHO Definition

Methylmalonate semialdehyde dehydrogenase deficiency – http://id.who.int/icd/entity/1700759193

This refers to a deficiency in an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways.