1. Diseases
  2. Neurological conditions associated with aminoacylase 1 deficiency

Neurological conditions associated with aminoacylase 1 deficiency

Disease Export to PDF
Name:
Neurological conditions associated with aminoacylase 1 deficiency
Description:
An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.
ORPHAcode:
137754
Synonyms:
ACY1D
N-acyl-L-amino acid amidohydrolase deficiency
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
ACY1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14