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 / Organisms
glutaric acidemia I
Summary
- Synonym
-
- GA1
- glutaric academia type 1
- glutaric aciduria 1
- glutaric aciduria type I
- glutaryl-coA dehydrogenase deficiency
- glutaryl-coenzyme A dehydrogenase deficiency
- Definition
- An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.
- Super Class
- autosomal recessive disease organic acidemia
External Links
- Disease Ontology
- DOID:0111254
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002376 | Developmental regression |
| HP:0002451 | Limb dystonia |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0003150 | Glutaric aciduria |
| HP:0003162 | Fasting hypoglycemia |
| HP:0003546 | Exercise intolerance |
| HP:0004481 | Progressive macrocephaly |
| HP:0006829 | Severe muscular hypotonia |
| HP:0007132 | Pallidal degeneration |
| HP:0007185 | Loss of consciousness |
