Catalog

Neurological conditions associated with aminoacylase 1 deficiency

No MMS code

Link to WHO Definition

Neurological conditions associated with aminoacylase 1 deficiency – http://id.who.int/icd/entity/620694696

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and variable neurologic symptoms. (delayed psychomotor development or seizures).