Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased activity of cytochrome C oxidase in muscle tissue
Always present (100%)HP:0003688
Elevated circulating butyrylcarnitine concentration
Always present (100%)HP:0033446
Mental and motor retardation
Always present (100%)HP:0001263
Encephalopathy
Very frequent (80-99%)HP:0001298
Ethylmalonic aciduria
Very frequent (80-99%)HP:0003219
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Abnormal basal ganglia MRI signal intensity
Frequent (30-79%)HP:0012751
Ataxia
Frequent (30-79%)HP:0001251
Chronic diarrhoea
Frequent (30-79%)HP:0002028
Corticospinal signs
Frequent (30-79%)HP:0007256
Diarrhea
Frequent (30-79%)HP:0002014
Epilepsy
Frequent (30-79%)HP:0001250
Extensor plantar responses
Frequent (30-79%)HP:0003487
Extrapyramidal dysfunction
Frequent (30-79%)HP:0002071
Feeding difficulties
Frequent (30-79%)HP:0011968
Focal T2 hyperintense basal ganglia lesion
Frequent (30-79%)HP:0007183
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Lacticacidemia
Frequent (30-79%)HP:0003128
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Persistent blue colour of hands or feet
Frequent (30-79%)HP:0001063
Petechiae
Frequent (30-79%)HP:0000967
Poor school performance
Frequent (30-79%)HP:0001249
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Psychomotor regression beginning in infancy
Frequent (30-79%)HP:0002376
Tortuous retinal vessels
Frequent (30-79%)HP:0012841
Abnormal brainstem MRI signal intensity
Occasional (5-29%)HP:0012747
Abnormality of retina blood vessels
HP:0008046
Elevated circulating thiosulfate concentration
HP:6000757
Quick Facts
- SNOMED CT
- 723307008
- UMLS CUI
- C1865349
- Fully Specified Name
- Ethylmalonic encephalopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.