Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated urinary 7-hydroxyoctanoic acid level
Always present (100%)HP:6000605
Metabolic acidosis
Always present (100%)HP:0001942
Reduced MCAD activity in cultured fibroblasts
Always present (100%)HP:6000356
Decreased plasma total carnitine
Frequent (30-79%)HP:0011936
Dicarboxylic aciduria
Frequent (30-79%)HP:0003215
Enlarged liver
Frequent (30-79%)HP:0002240
Fatigable weakness of limb muscles
Frequent (30-79%)HP:0003473
Fatigable weakness of neck muscles
Frequent (30-79%)HP:0030199
High blood ammonia levels
Frequent (30-79%)HP:0001987
Liver dysfunction
Frequent (30-79%)HP:0001410
Muscle pain with exercise
Frequent (30-79%)HP:0003738
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Proximal neurogenic muscle weakness
Frequent (30-79%)HP:0003701
Reduced tendon reflexes
Frequent (30-79%)HP:0001315
Vomiting
Frequent (30-79%)HP:0002013
Abnormal circulating LDH concentration
Occasional (5-29%)HP:0045040
Abnormal heart rate
Occasional (5-29%)HP:0011675
Ataxia
Occasional (5-29%)HP:0001251
Big calvaria
Occasional (5-29%)HP:0000256
Cachexia
Occasional (5-29%)HP:0004326
Diarrhea
Occasional (5-29%)HP:0002014
Distal arthrogryposis
Occasional (5-29%)HP:0005684
Dullness
Occasional (5-29%)HP:0001254
Elevated circulating creatine phosphokinase
Occasional (5-29%)HP:0003236
Elevated urinary 3-hydroxybutyric acid
Occasional (5-29%)HP:0040155
Exertional dyspnea
Occasional (5-29%)HP:0002875
Fatty liver
Occasional (5-29%)HP:0001397
Febrile seizure (within the age range of 3 months to 6 years)
Occasional (5-29%)HP:0002373
Generalized tonic-clonic seizure (without specification of onset)
Occasional (5-29%)HP:0002069
Hyperketosis
Occasional (5-29%)HP:0001946
Related Conditions
Quick Facts
- SNOMED CT
- 128596003
- UMLS CUI
- C0220710
- Fully Specified Name
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (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.