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Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

7 Jan 2020

Abstract excerpt

Methylmalonic acidaemia with homocystinuria type C (cblC defect) is an inherited error of cobalamin metabolism. Cobalamin deficient processing results in high levels of methylmalonic acid and homocysteine. The latter is considered to be a risk factor for multiple sclerosis (MS). We report on the first case of a patient with comorbid cblC defect and MS. This young male presented at the age of 14 with a...

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PMID: 32099815
DOI: 10.1016/j.ymgmr.2019.100560

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