Overview
Deficiency of methylmalonyl-CoA mutase is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Dehydration
Very frequent (80-99%)HP:0001944
Inactivity
Very frequent (80-99%)HP:0001254
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Persistent vegetative state
Very frequent (80-99%)HP:0001259
Respiratory function loss
Very frequent (80-99%)HP:0002093
Enlarged liver
Frequent (30-79%)HP:0002240
Leukopenia
Frequent (30-79%)HP:0001882
Low platelet count
Frequent (30-79%)HP:0001873
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Abnormal vocalization
Occasional (5-29%)HP:0002167
Ataxia
Occasional (5-29%)HP:0001251
Choreoathetoid movements
Occasional (5-29%)HP:0001266
Decreased haemoglobin
Occasional (5-29%)HP:0001903
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Epilepsy
Occasional (5-29%)HP:0001250
High blood ammonia levels
Occasional (5-29%)HP:0001987
Immune deficiency
Occasional (5-29%)HP:0002721
Macrocytic anemia
Occasional (5-29%)HP:0001972
Optic atrophy
Occasional (5-29%)HP:0000648
Pancreatitis
Occasional (5-29%)HP:0001733
Partial paralysis of legs
Occasional (5-29%)HP:0002385
Quadriparesis
Occasional (5-29%)HP:0002273
Renal insufficiency
Occasional (5-29%)HP:0000083
Quick Facts
- SNOMED CT
- 124680001
- UMLS CUI
- C2931536
- Fully Specified Name
- Deficiency of methylmalonyl-coenzyme A mutase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.