Orphanet: Neurological conditions associated with aminoacylase 1 deficiency

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Neurological conditions associated with aminoacylase 1 deficiency

Disease definition

An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.


Classification level: Disorder
  • Synonym(s):
    • ACY1D
    • N-acyl-L-amino acid amidohydrolase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E72.8
  • OMIM: 609924
  • UMLS: C1835922
  • MeSH: -
  • GARD: 9741
  • MedDRA: -
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