ABSTRACT
Episodic neurologic deterioration and psychomotor regression beginning in the second year of life, with ataxia, encephalopathy, and failure to thrive, progressive to refractory seizures, cortical blindness, stroke-like episodes, acute fulminant hepatic failure, with micronodular cirrhosis, respiratory failure, and coma; fasting hypoglycemia, dicarboxylic aciduria, lactic acidemia, mitochondrial DNA depletion and deficient activity of intramitochondrial DNA polymerase γ.
