# Aminoacylase 1 deficiency

> Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms

**Wikidata**: [Q28208917](https://www.wikidata.org/wiki/Q28208917)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Aminoacylase_1_deficiency)  
**Source**: https://4ort.xyz/entity/aminoacylase-1-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Aminoacylase I deficiency: A novel inborn error of metabolism
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/67196825-d32f-4070-9c15-debaa2287b73--2020-09-25T16:00:00)
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67196825-d32f-4070-9c15-debaa2287b73-2020-09-25T160000.000Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000243989/EFO_1001981)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000243989/Orphanet_137754)