| METHYLMALONIC ACIDURIA, ATYPICAL | |
| case report (MMA, atypical) 2 siblings with atypical methylmalonic aciduria and progressive encephalopathy and normal activity of methylmalonyl-CoA mutase | |
| Laboratory findings | Methylmalonic acid inc (urine) |
| Symptoms | athetosis cataract dystonia encephalopathy failure to thrive growth retardation, poor growth hypertonia, spasticity mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myopathy onset, infancy ophthalmoplegia peripheral neuropathy |