title: Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.
abstract: Aminoacylase 1 (ACY1) deficiency is a rare inborn error of metabolism presenting with heterogeneous neurological symptoms such as psychomotor delay, seizures, intellectual disability and it is characterized by increased urinary excretion of N-acetylated amino acids. We report on a new patient who presented ACY1 deficiency in association with isolated mild intellectual disability, but neither neurological symptoms nor autistic features. The child showed a compound heterozygous mutation (p.Glu233Asp) and a novel p.Ser192Arg fs*64, predicting an unstable transcript and resulting in very low protein levels.This new ACY1 deficient child was identified through regular screening for inborn error of metabolism adopted in our department in all cases of intellectual disability. This report supports a recommendation to perform metabolic investigations in patients with isolated mild intellectual disability.
authors.affiliation: Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128, Pisa, Italy, mg.alessandri@fsm.unipi.it.
authors.forename: Maria G
authors.initials: MG
authors.lastname: Alessandrì
authors.forename: Manuela
authors.initials: M
authors.lastname: Casarano
authors.forename: Ilaria
authors.initials: I
authors.lastname: Pezzini
authors.forename: Stefano
authors.initials: S
authors.lastname: Doccini
authors.forename: Claudia
authors.initials: C
authors.lastname: Nesti
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cioni
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini