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combined malonic and methylmalonic acidemia
Summary
- Synonym
-
- CMAMMA
- combined malonic and methylmalonic aciduria
- Definition
- An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
- Super Class
- autosomal recessive disease organic acidemia
External Links
- Disease Ontology
- DOID:0111263
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q4G176 | Malonate--CoA ligase ACSF3, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002076 | Migraine |
| HP:0000252 | Microcephaly |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0001941 | Acidosis |
| HP:0008936 | Axial hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0002013 | Vomiting |
| HP:0012120 | Methylmalonic aciduria |
| HP:0001332 | Dystonia |
| HP:0002254 | Intermittent diarrhea |
