Catalog

Vitamin B12 responsive methylmalonic aciduria type cbl A

No MMS code

Link to WHO Definition

Vitamin B12 responsive methylmalonic aciduria type cbl A – http://id.who.int/icd/entity/512037803

This refers to vitamin B12 responsive, type cbl A, stemming from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia.