Overview
Mutase0 methylmalonic acidemia 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.
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Persistent vegetative state
Very frequent (80-99%)HP:0001259
Poor growth
Very frequent (80-99%)HP:0001510
Torpor
Very frequent (80-99%)HP:0001254
Central hypotonia
Frequent (30-79%)HP:0001252
Enlarged liver
Frequent (30-79%)HP:0002240
Laboured breathing
Frequent (30-79%)HP:0002098
Mental and motor retardation
Frequent (30-79%)HP:0001263
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Thrombocytopenia
Frequent (30-79%)HP:0001873
Choreiform movements
Occasional (5-29%)HP:0002072
Choreoathetosis
Occasional (5-29%)HP:0001266
Decreased haemoglobin
Occasional (5-29%)HP:0001903
Dystonic movements
Occasional (5-29%)HP:0001332
High blood ammonia levels
Occasional (5-29%)HP:0001987
Infection in blood stream
Occasional (5-29%)HP:0100806
Neutropoenia
Occasional (5-29%)HP:0001875
Optic atrophy
Occasional (5-29%)HP:0000648
Pancreatitis
Occasional (5-29%)HP:0001733
Paralysis or weakness of one side of body
Occasional (5-29%)HP:0004374
Renal failure in adulthood
Occasional (5-29%)HP:0000083
Renal tubular defect
Occasional (5-29%)HP:0000124
Related Conditions
Quick Facts
- SNOMED CT
- 237945003
- UMLS CUI
- C0342718
- Fully Specified Name
- Complete deficiency of methylmalonyl-coenzyme A mutase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.