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MAMEL (METHYLMALONIC ACIDURIA MITOCHONDRIAL ENCEPHELOPATHY LEIGH-LIKE) A NEW MITOCHONDRIAL ENCEPHALOPATHY

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