decreased muscle volume, atrophy or hypoplasia

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decreased muscle volume, atrophy or hypoplasia

hair, abnormal (thin, brittle)

liver involvement (acute, chronic, hepatitis)

pancreatitis

Pyruvate, Pyruvic acid [+]

Associated Diseases	Laboratory Findings	Clinical Symptoms
RESPIRATORY CHAIN DEFICIENCIES	3-Hydroxybutyrate/Acetoacetate 3-Methylglutaconic acid Complex I activity Complex II activity Complex III activity Complex IV activity Creatinine kinase ECG abnormalities [-] Ethylmalonic acid Glucose tolerance impaired Glucose Insulin Ketone bodies Lactate Lactate/Pyruvate ratio MRI brain abnormalities [-] Myoglobin Pyruvate Pyruvic acid Transaminases	anemia ataxia brown colored urine cardiomyopathy cataract cholestasis cortical or cerebral atrophy decreased muscle volume, atrophy or hypoplasia defect of adrenal gland or function defect of thyroid gland diarrhea encephalopathy exercise intolerance failure to thrive Fanconi syndrome growth retardation hair, abnormal (thin, brittle) headache (severe, recurrent or occipital, migraine) hearing defect, deafness heart involvement hemiparesis/hemiparetic cerebral palsy hyperammonemia hypertonia, spasticity hypoglycemia hypotonia ketosis lactic acidosis large liver lethargy, drowsiness, malaise or sleep disorder liver failure liver involvement (acute, chronic, hepatitis) mental retardation metabolic acidosis motor retardation myoclonus myopathy neurological deterioration neutropenia (decreased neutrophils) obstructive airway disease onset, adolescent onset, child onset, infant onset, newborn pain, muscle pancreatic insufficiency pancreatitis pigmentation, skin and sclera ptosis (drooping eyelid) renal failure, acute/chronic retinitis pigmentosa rhabdomyolysis strokelike episodes tubulopathy vomiting