Catalog

Vitamin B12 responsive methylmalonic aciduria type cbl mut-

No MMS code

Link to WHO Definition

Vitamin B12 responsive methylmalonic aciduria type cbl mut- – http://id.who.int/icd/entity/2133807607

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