Vitamin B12-responsive methylmalonic acidemia

MONDO:0017214

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).

Also known as: adenosylcobalamin deficiency, vitamin B12-responsive methylmalonic aciduria

13 clinical trials for this condition and its sub-types, 0 tagged with Vitamin B12-responsive methylmalonic acidemia itself.

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Part of

↑ Classic organic aciduria (20) ↑ Methylmalonic acidemia (8) ↑ Inborn disorder of cobalamin metabolism and transport (3)

Sub-types of Vitamin B12-responsive methylmalonic acidemia

Methylmalonic aciduria, cblA type 2 trials
Methylmalonic aciduria, cblB type 1 trial
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 0 trials

Including sub-types (13) Tagged with Vitamin B12-responsive methylmalonic acidemia (0)

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