Vitamin B12-unresponsive methylmalonic acidemia type mut0
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Definition
Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Also known as complete deficiency of methylmalonyl-CoA mutase, vitamin B12-unresponsive methylmalonic aciduria type mut0 — per MONDO