vitamin B12-responsive methylmalonic acidemia
An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0002012
methylmalonic acidemia
is_a
MONDO:0019215
classic organic aciduria
is_a
MONDO:0019220
inborn disorder of cobalamin metabolism and transport
is_a
adenosylcobalamin deficiency
exact
vitamin B12-responsive methylmalonic aciduria
exact