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Article

Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.

Metabolic brain disease - 1 Jun 2022

Waisbren Susan E

Abstract excerpt

Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsychological deficits. "Isolated" MMA refers to the presence of excess methylmalonic acid without homocysteine elevation. Belonging to this class of disorders are those that...

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PMID: 35348993
DOI: 10.1007/s11011-022-00954-1

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