vitamin B12-unresponsive methylmalonic acidemia type mut0
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.
MONDO:0009612
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
is_a
complete deficiency of methylmalonyl-CoA mutase
exact
vitamin B12-unresponsive methylmalonic aciduria type mut0
exact