Aminoacylase 1 deficiency
MeSH: C538246ORPHA: 137754
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Aminoacylase 1 deficiency, sourced from HPO and Orphanet clinical annotations.
HypotoniaEncephalopathyGeneralized muscle weaknessSeizureGlobal developmental delayVomitingApneaSyringomyeliaAplasia/Hypoplasia of the cerebellar vermisAplasia/Hypoplasia of the corpus callosumHypertelorismSensorineural hearing impairmentWide nose
Classification & Codes
MeSH Code
C538246Orphanet Code
ORPHA:137754Aminoacylase 1 deficiency
| MeSH | C538246 |
| Orphanet | ORPHA:137754 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO