aminoacylase 1 deficiency
Findings
No curated finding names aminoacylase 1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012368), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acute encephalopathyHPOHP:0006846
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- BradycardiaHPOHP:0001662
- 1 of 1 reported patient
- Breech presentationHPOHP:0001623
- 1 of 1 reported patient
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
Show the remaining 8
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Occasional (5% to 29% of cases)
- ApneaHPOHP:0002104
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- SyringomyeliaHPOHP:0003396
- Occasional (5% to 29% of cases)
- VomitingHPOHP:0002013
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACY1HGNC:177
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: aminoacylase 1 deficiency
- Also called
- ACY1DN-acyl-L-amino acid amidohydrolase deficiencyneurological conditions associated with aminoacylase 1 deficiency