The main clinical features include congenital cataract, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis. Other occasional features that could be present are:
• Cataracts
• Myopia
• Strabismus
• Respiratory insufficiency
• Delayed motor development
• Hypotonia
• Exercise intolerance
• Decreased cytochrome c oxidase staining
• Deficiency of mitochondrial complexes I, III, and IV
• Mitochondrial DNA depletion
• Defective mitochondrial oxidative phosphorylation of multiple enzymes
• Lipid storage myopathy
• Abnormal mitochondria with loss of cristae
AGK