| RESPIRATORY CHAIN DEFICIENCIES | |
| rare autosomal recessive autosomal dominant X-linked maternal sporadic | |
| Laboratory findings | 3-Hydroxybutyrate/Acetoacetate () 3-Methylglutaconic acid inc (urine) Ammonia normal/inc (blood) Complex I activity () Complex II activity () Complex III activity () Complex IV activity () Creatine kinase inc (serum) D-Glucose dec (blood) Ethylmalonic acid inc (urine) Insulin () Ketone bodies (urine) inc (urine) Ketone bodies (urine) inc (blood) L-Lactic acid inc (blood) Lactate/Pyruvate ratio inc (blood) Myoglobin inc (urine) Pyruvic acid inc (blood) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | hypoglycemia 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 ECG abnormalities [-] encephalopathy epilepsy exercise intolerance failure to thrive Fanconi syndrome Glucose tolerance, impaired growth retardation, poor growth hair, abnormal (thin, brittle, fine) headache (severe, recurrent or occipital, migraine) hearing defect, deafness heart involvement hemiparesis/hemiplegia/hemiparetic cerebral palsy hepatomegaly (large liver) hyperammonemia hypertonia, spasticity hypotonia ketosis, ketoacidosis lactic acidosis lethargy, drowsiness, apathy liver failure liver involvement or dysfunction mental retardation metabolic acidosis motor retardation MRI, brain, abnormalities [-] myoclonus myopathy neurological deterioration neutropenia (decreased neutrophils) obstructive airway disease onset, adolescent onset, childhood onset, infancy onset, neonatal pain, muscle pancreatic insufficiency pancreatitis paresis pigmentation, skin and sclera ptosis (drooping eyelid) renal failure, acute/chronic retinitis pigmentosa rhabdomyolysis strokelike episodes tubulopathy urine color, abnormal vomiting |