mitochondrial complex IV deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
mitochondria
|
| gptkbp:alsoKnownAs |
cytochrome c oxidase deficiency
|
| gptkbp:cause |
reduced ATP production
|
| gptkbp:causedBy |
mutations in nuclear or mitochondrial DNA
|
| gptkbp:diagnosedBy |
genetic testing
biochemical assays |
| https://www.w3.org/2000/01/rdf-schema#label |
mitochondrial complex IV deficiency
|
| gptkbp:impact |
electron transport chain
|
| gptkbp:inheritance |
autosomal recessive
mitochondrial inheritance |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hypotonia
muscle weakness failure to thrive developmental delay cardiomyopathy liver dysfunction lactic acidosis |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:P00441
|
| gptkbp:bfsLayer |
6
|