Journal
BRAIN & DEVELOPMENT
Volume 40, Issue 7, Pages 570-575Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2018.03.009
Keywords
ACY1 deficiency; Inborn error of metabolism; Intellectual disability; Neuropsychological profile; N-acetylated amino acid
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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. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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