Vitamin B12-unresponsive methylmalonic acidemia

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Vitamin B12-unresponsive methylmalonic acidemia

Synonyms: Methylmalonyl-CoA mutase deficiency | Methylmalonyl-Coenzyme A mutase deficiency | Vitamin B12-unresponsive methylmalonic aciduria

Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting dehydration hypotonia and intellectual deficit which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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