Aminoacylase 1 deficiency

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.

Also known as ACY1D, aminoacylase 1 deficiency, N-acyl-L-amino acid amidohydrolase deficiency, neurological conditions associated with aminoacylase 1 deficiency — per MONDO

Also identified as

• ICD9 270.8 per MONDO
• MESH C538246 per MONDO
• OMIM 609924 per MONDO
• Orphanet 137754 per MONDO
• SCTID 709282004 per MONDO
• UMLS C1835922 per MONDO