Seven year old boy with abnormal behavior-methylmalonic aciduria and homocystinuria

الملخص EN

Mutations in the methylmalonic aciduria and homocystinuria type c.394C > T (p.R 132X) can cause a defect in B12 metabolism, which could lead to neuropsychiatric disorder.

We report a seven year old boy with abnormal behavior.

Brain MRI showed T2 and FLAIR hyperintensities in the cerebral white matter.

The patient methylmalonic aciduria and homocystinuria type c gene was positive for c.394C > T (p.R 132X).

The clinical symptoms improved after Cobalamin replacement therapy.