# succinic semialdehyde dehydrogenase deficiency

> Rare disorder involving deficiency in GABA degradation

**Wikidata**: [Q2823333](https://www.wikidata.org/wiki/Q2823333)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency)  
**Source**: https://4ort.xyz/entity/succinic-semialdehyde-dehydrogenase-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3e57466-df2f-4045-b374-010dbd334bfc-2021-04-27T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000112294/MONDO_0010083)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)