Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male
Background: 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. Case report: This young male presented at the age of 14 with a relapsing-remitting neurological disorder associated with imaging alterations suggestive of MS.