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

ABSTRACT:

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. Treatment resulted in a partial clinical improvement with vanishing of white matter lesions. Later on, the emergence of unexpected clinical features led to a metabolic work-up, revealing a cobalamin intracellular defect. Genetic analysis disclosed a single vari

SUBMITTER: Pollini L 

PROVIDER: S-EPMC7026611 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature