Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MUT gene.
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Kaplan P et al. (2006) Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency. |
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Willard HF et al. (1977) Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin. |
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Orphanet article Orphanet ID 289916 |
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OMIM.ORG article Omim 251000 |