Long-term outcome in methylmalonic aciduria: a series of 30 French patients

MA Cosson, JF Benoist, G Touati, M Dechaux… - Molecular genetics and …, 2009 - Elsevier
OBJECTIVE: To better delineate the natural history of patients with methylmalonic aciduria
(MMA). STUDY DESIGN: Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5
to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were
managed following standardized guidelines and studied retrospectively. The median follow-
up was 8.3 y (range: 1.4–19.5). Patients were investigated with neuropsychological testing,
brain MRIs, inulin clearances, biochemical and genetic studies. RESULTS: Fifteen patients …