Disease & disorder
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
MONDO:0012512
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.