Catalog

Glutaric aciduria type 1

No MMS code

Link to WHO Definition

Glutaric aciduria type 1 – http://id.who.int/icd/entity/1749323401

Glutaric acidemia type 1 is an inborn error of lysine and triptophan metabolism due to glutaryl-Coenzyme A (CoA) dehydrogenase deficiency clinically characterised by a acute encephalopathy that results in bilateral striatal damage leading to a severe dystonic dyskinetic movement disorder.