mitochondrial complex II deficiency
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
mitochondrial disease |
| gptkbp:affects |
gptkb:succinate_dehydrogenase_complex
mitochondrial respiratory chain |
| gptkbp:causedBy |
mutations in SDHA gene
mutations in SDHB gene mutations in SDHC gene mutations in SDHD gene |
| gptkbp:diagnosedBy |
genetic testing
biochemical analysis |
| https://www.w3.org/2000/01/rdf-schema#label |
mitochondrial complex II deficiency
|
| gptkbp:ICD-10_code |
E88.40
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
252011
|
| gptkbp:symptom |
gptkb:encephalopathy
hypotonia muscle weakness developmental delay cardiomyopathy lactic acidosis |
| gptkbp:treatment |
supportive care
symptomatic management |
| gptkbp:bfsParent |
gptkb:succinate_dehydrogenase
|
| gptkbp:bfsLayer |
6
|