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Methylmalonic aciduria, cblA type

MONDO:0009613

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.

Also known as: Methylmalonic aciduria, vitamin B12-responsive, cblA type, cobalamin A disease, cobalamin B disease, methylmalonic acidemia cblA type, methylmalonic acidemia, cblA type, methylmalonic aciduria cblA type, methylmalonic aciduria, cblA type, methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type

13 clinical trials for this condition and its sub-types, 2 tagged with Methylmalonic aciduria, cblA type itself.

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