AGK

Clinical Characteristics

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