vitamin B12-unresponsive methylmalonic acidemia type mut-
Vitamin B12-unresponsive methylmalonic acidemia type mut- 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
partial deficiency of methylmalonyl-CoA mutase
exact
vitamin B12-unresponsive methylmalonic aciduria type mut-
exact