# propionic acidemia

> organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy

**Wikidata**: [Q7250337](https://www.wikidata.org/wiki/Q7250337)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Propionic_acidemia)  
**Source**: https://4ort.xyz/entity/propionic-acidemia


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. UniProt
5. Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/32a55e25-8632-4f31-84af-3eaf8098ca18--2018-12-13T17:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32a55e25-8632-4f31-84af-3eaf8098ca18-2018-12-13T170000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000175198/MONDO_0011628)
9. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1cd49a9b-08c2-49db-8e97-e334f171e34d--2018-12-13T17:00:00)
11. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cd49a9b-08c2-49db-8e97-e334f171e34d-2018-12-13T170000.000Z)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000114054/MONDO_0011628)
13. [Identifiers.org](https://registry.identifiers.org/registry/doid)
14. Human Phenotype Ontology release 2018-03-08
15. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)