Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased activity of mitochondrial complex I
Always present (100%)HP:0011923
Cardiomyopathy, hypertrophic
Frequent (30-79%)HP:0001639
Chronic heart failure
Frequent (30-79%)HP:0001635
Decreased plasma carnitine
Frequent (30-79%)HP:0003234
Elevated circulating acylcarnitine concentration
Frequent (30-79%)HP:0045045
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Encephalopathy
Frequent (30-79%)HP:0001298
Fatigable weakness of limb muscles
Frequent (30-79%)HP:0003473
Fatty liver
Frequent (30-79%)HP:0001397
High blood ammonia levels
Frequent (30-79%)HP:0001987
Increased blood lactate
Frequent (30-79%)HP:0002151
Increased creatine phosphokinase after exercise
Frequent (30-79%)HP:0008331
Increased lactate dehydrogenase level
Frequent (30-79%)HP:0025435
Lacticacidosis
Frequent (30-79%)HP:0003128
Low factor II activity
Frequent (30-79%)HP:0008151
Muscle pain
Frequent (30-79%)HP:0003326
Muscle weakness, generalised
Frequent (30-79%)HP:0003324
Myopathy
Frequent (30-79%)HP:0003198
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Stretched and thinned heart muscle
Frequent (30-79%)HP:0001644
Thrombocytopenia
Frequent (30-79%)HP:0001873
Acute liver failure
Occasional (5-29%)HP:0006554
Cerebellar haemorrhage
Occasional (5-29%)HP:0011695
Cerebral oedema
Occasional (5-29%)HP:0002181
Dicarboxylic aciduria
Occasional (5-29%)HP:0003215
Nonketotic hypoglycemia
Occasional (5-29%)HP:0001958
Poor exercise tolerance
Occasional (5-29%)HP:0003546
Sudden cardiac death
Occasional (5-29%)HP:0001645
Cerebral vascular events
HP:0001297
Generalised decreased muscle tone
HP:0001290
Quick Facts
- SNOMED CT
- 725046003
- UMLS CUI
- C1970173
- Fully Specified Name
- Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.