Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Glycosuria, Hemiplegia/hemiparesis, Hepatocellular necrosis, Hepatomegaly, High palate, Hyperphosphaturia, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypotonia, Increased CSF lactate, Increased circulating lactate concentration, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Intellectual disability, Lactic acidosis, Leukoencephalopathy, Motor delay, Nystagmus, Ophthalmoplegia, Optic atrophy, Pigmentary retinopathy, Progressive ophthalmoplegia, Progressive spastic paraplegia, Proteinuria, Psychomotor retardation, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Seizure, Sensorineural hearing impairment, Spasticity, Strabismus, Weakness of facial musculature

decreased dopaminergic neuron number, decreased locomotor activity, decreased skeletal muscle mass, decreased vertical activity, hippocampal neuron degeneration, increased interleukin-1 beta secretion, increased microglial cell activation, increased variability of skeletal muscle fiber size, loss of dopaminergic neurons, microgliosis, neuron degeneration, premature death