mitochondrial complex V deficiency
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
mitochondrial disease |
| gptkbp:affects |
energy production
mitochondrial ATP synthase |
| gptkbp:causedBy |
mutations in ATP5A1 gene
mutations in MT-ATP6 gene mutations in MT-ATP8 gene |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| https://www.w3.org/2000/01/rdf-schema#label |
mitochondrial complex V deficiency
|
| gptkbp:inheritance |
autosomal recessive
mitochondrial inheritance |
| gptkbp:OMIM |
604273
|
| gptkbp:symptom |
gptkb:encephalopathy
hypotonia developmental delay cardiomyopathy lactic acidosis |
| gptkbp:treatment |
supportive care
symptomatic management |
| gptkbp:bfsParent |
gptkb:ATP5F1D
gptkb:ATP5F1E gptkb:MT-ATP6 gptkb:ATP5F1A gptkb:ATP5F1C gptkb:ATP5PD gptkb:ATP5PF gptkb:MT-ATP8 |
| gptkbp:bfsLayer |
8
|