# glutaric aciduria type 1

> Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder

**Wikidata**: [Q2140501](https://www.wikidata.org/wiki/Q2140501)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Glutaric_aciduria_type_1)  
**Source**: https://4ort.xyz/entity/glutaric-aciduria-type-1


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Monarch Disease Ontology release 2018-06-29
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/33a2c95e-a057-4b93-b97e-27b6597516e5--2019-11-08T13:25:56)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/33a2c95e-a057-4b93-b97e-27b6597516e5--2019-11-08T17:00:00)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33a2c95e-a057-4b93-b97e-27b6597516e5-2019-11-08T170000.000Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000105607/MONDO_0009281)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)