A homozyous missense variant in the ACY1 gene (c.1057C>T; p.Arg353Cys) was identified in a patient with ACY1 deficiency who was diagnosed with autistic syndrome (Tylki-Szymanska et al., 2010). Autistic features have also been reported in other individuals with ACY1 deficiency (Sommer et al., 2011; Alessandri et al., 2018).
This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. Mutations in this gene cause aminoacylase-1 deficiency (ACY1D) [MIM:609924], a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids.
Type of Disorder
Aminoacylase 1 deficiency associated with autistic behavior.