Four years follow up of ACY1 deficient patient and pedigree study

Publication date: Available online 10 April 2018
Source:Brain and Development
Author(s): Maria Grazia Alessandrì, Roberta Milone, Claudia Casalini, Claudia Nesti, Giovanni Cioni, Roberta Battini
Aminoacylase 1 deficiency (ACY1D) is a rare inborn error of metabolism characterized by increased urinary excretion of N-acetylated amino acids. Clinical phenotypes of 15 known patients with ACY1 deficiency have been described up to now. Findings are greatly variable, ranging from normality to relevant neurological and psychiatric impairments, but clinical follow up has been rarely reported. To partially fill this gap, we present a detailed clinical description and the outcome four years post-diagnosis of a patient already described, with mild intellectual disability, language delay, autistic traits and compound heterozygous mutations in ACY1.



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