MAMEL (METHYLMALONIC ACIDURIA MITOCHONDRIAL ENCEPHELOPATHY LEIGH-LIKE) A NEW MITOCHONDRIAL ENCEPHALOPATHY | |
Laboratory findings | Acylcarnitine/carnitine ratio inc (blood) Methylmalonic acid inc (urine) |
Symptoms | lactic acidosis athetosis dystonia failure to thrive hypotonia mental retardation motor retardation MRI, brain, abnormalities [-] onset, childhood onset, infancy onset, neonatal |