Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
The list of signs and symptoms mentioned in various sources for Complex 1 mitochondrial respiratory chain deficiency includes the 29 symptoms listed below: * Enlarged head * Cardiomyopathy * Encephalopathy * Progressive leukodystrophy * Leigh's disease * Liver disease * Parkinson's disease * Leber hereditary optic neuropathy * Acidosis * Muscle disease * Eye problems * Dementia * Exercise intolerance * High blood lactic acid levels with exercise * Muscle weakness * Muscle wasting * Poor muscle tone * Respiratory distress soon after birth * Low blood sugar soon after birth * Enlarged heart * Seizures * Enlarged liver * Incoordination * Reduced reflexes * Sensorineural hearing loss * Drooping eyelids * Brain swelling * Retarded growth * Liver failure
These home medical tests may be relevant to Complex 1 mitochondrial respiratory chain deficiency: * Home Lung Function Tests
* Lung Health Specialists (Pulmonologist): * Pulmonology * Pediatric Pulmonology (Child Lung Health)