Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- 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:0001508 | Failure to thrive |
| HP:0002354 | Memory impairment |
| HP:0001250 | Seizure |
| HP:0003215 | Dicarboxylic aciduria |
| HP:0001993 | Ketoacidosis |
| HP:0000708 | Atypical behavior |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001943 | Hypoglycemia |
| HP:0011169 | Generalized clonic seizure |
| HP:0001298 | Encephalopathy |
