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Vitamin B12-responsive methylmalonic acidemia
rareAn 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).
- Identifiers
- MONDO:0017214 Orphanet:28
- Part of
- Classic organic aciduriaInborn disorder of cobalamin metabolism and transportMethylmalonic acidemia
- Also known as
- adenosylcobalamin deficiency · vitamin B12-responsive methylmalonic aciduria
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