Human (53 sources):
Aminoaciduria,
Anemia,
Arrhythmia,
Ataxia,
Blurred vision,
Central retinal vessel vascular tortuosity,
Central scotoma,
Centrocecal scotoma,
Cytochrome C oxidase-negative muscle fibers,
Decreased liver function,
Dystonia,
Exercise intolerance,
Exertional dyspnea,
Failure to thrive,
Generalized hypotonia,
Global developmental delay,
Glycosuria,
Hepatomegaly,
High palate,
Hyperphosphaturia,
Hypertrophic cardiomyopathy,
Hypotonia,
Increased CSF lactate,
Increased circulating lactate concentration,
Increased hepatocellular lipid droplets,
Increased intramyocellular lipid droplets,
Intellectual disability,
Lactic acidosis,
Leber optic atrophy,
Leukoencephalopathy,
Mitochondrial respiratory chain defects,
Motor delay,
Myopathy,
Optic atrophy,
Optic neuropathy,
Peripheral neuropathy,
Pigmentary retinopathy,
Polyneuropathy,
Postural tremor,
Proteinuria,
Ptosis,
Renal Fanconi syndrome,
Renal tubular dysfunction,
Respiratory distress,
Respiratory insufficiency due to muscle weakness,
Retinal telangiectasia,
Retinal vascular tortuosity,
Seizure,
Sensorineural hearing impairment,
Slow decrease in visual acuity,
Ventricular preexcitation,
Visual loss,
Weakness of facial musculature
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