Four years follow up of ACY1 deficient patient and pedigree study

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)570-575
Number of pages6
JournalBrain and Development
Issue number7
Publication statusPublished - Aug 1 2018


  • ACY1 deficiency
  • Inborn error of metabolism
  • Intellectual disability
  • N-acetylated amino acid
  • Neuropsychological profile

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology


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