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aminoacylase 1 deficiency (ACY1D) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aminoacylase 1 deficiency

MONDO:0012368

Also known as:ACY1DN-acyl-L-amino acid amidohydrolase deficiencyneurological conditions associated with aminoacylase 1 deficiency

Overview

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.

GeneticsAutosomal recessive · ACY1 (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Bilateral tonic-clonic seizure, Acute encephalopathy, Bradycardia, and Cerebral cortical atrophy and others; and common findings: Low muscle tone (hypotonia), Encephalopathy, and Generalized muscle weakness. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Bilateral tonic-clonic seizure, Acute encephalopathy, Brain shrinkage (cerebral atrophy)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ACY1 encodes aminoacylase 1 (408 aa). Aminoacylase involved in the hydrolysis of N-acetylated and N-formylated amino acids. Highest expression in Liver (125.6 TPM) and Kidney Cortex (113.0 TPM).

Aminoacylase 1 deficiency is caused by mutations in the ACY1 gene on chromosome 3.

The ACY1 protein participates in Defective ACY1 causes encephalopathy and Defective ACY1 does not hydrolyse mercapturic acids pathways.

ACY1 is classified as a druggable target (Enzyme and Protease categories) with score 0.0.

12 pathogenic variants reported in ACY1 in ClinVar, including hotspot variants 800812 and 18111.

Diagnosis

Genetic testing for ACY1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609924

Orphanet

European rare disease database

Orphanet:137754

GARD

Genetic and Rare Diseases Info Center

GARD:9741

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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aminoacylase 1 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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