Defective ACY1 causes encephalopathy

Aminoacylase 1 (ACY1) is a cytosolic, homodimeric zinc-binding metalloenzyme with a wide range of tissue expression. It hydrolyses acylated L-amino acids (except L-aspartate) into L-amino acids and an acyl group. It can also hydrolyse N-acetylcysteine-S-conjugates. Defects in ACY1 can cause aminoacylase-1 deficiency (ACY1D; MIM:609924) resulting in encephalopathy, delay in psychomotor development, seizures and increased urinary excretion of several N-acetylated amino acids.

Summary from Reactome (R-HSA-5579007), read 2026-09-23.