Complex 4 mitochondrial respiratory chain deficiency
Overview
Complex 4 mitochondrial respiratory chain deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. There are two subtypes: the benign infantile type only affects muscles whereas the fatal infant type affects the heart and kidneys as well as the muscles.
Symptoms
The list of signs and symptoms mentioned in various sources for Complex 4 mitochondrial respiratory chain deficiency includes the 6 symptoms listed below:
- Enzyme cytochrome C oxidase deficiency
- Complex IV deficiency
- Muscle weakness
- Heart dysfunction
- Kidney dysfunction
- High blood level of lactic acid
Diagnosis
Home medical testing related to Complex 4 mitochondrial respiratory chain deficiency: * Home Lung Function Tests
Treatment
Lung Health Specialists (Pulmonologist): * Pulmonology * Pediatric Pulmonology (Child Lung Health)