Catalog

Fumarase deficiency

No MMS code

Link to WHO Definition

Fumarase deficiency – http://id.who.int/icd/entity/780506966

Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions, respiratory distress, frequent cerebral malformations and polyhydramnios.