has material basis in germline mutation in ACY1 inborn disorder of amino acid metabolism aminoacylase 1 deficiency https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency https://www.malacards.org/card/aminoacylase_1_deficiency MONDO:0012368 Orphanet:137754 MESH:C538246 UMLS:C1835922 SCTID:709282004 deficiency of the aminoacylase-1 enzyme GARD:0009741 aminoacylase 1 deficiency neurological conditions associated with aminoacylase 1 deficiency EFO:1001981 N-acyl-L-amino acid amidohydrolase deficiency ACY1 deficiency ACY1D OMIM:609924 MEDGEN:324393 ICD9:270.8 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. inborn aminoacylase deficiency