{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T04:00:12Z","timestamp":1789185612184,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,11,18]],"date-time":"2013-11-18T00:00:00Z","timestamp":1384732800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,10]]},"abstract":"Aminoacylase 1 (ACY1<\/jats:styled-content>) deficiency is a rare inborn error of metabolism of which less than 20 observations have been described. Patients exhibit urinary excretion of specific N<\/jats:italic>\u2010acetyl amino acids and manifest a heterogeneous clinical spectrum including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features. Here, we report the case of ACY1<\/jats:styled-content> enzyme deficiency in a 6\u2010year\u2010old girl presenting severe intellectual disability, motor retardation, absence of spontaneous locomotor activity and severe speech delay. Urinary excretion of N<\/jats:italic>\u2010acetylated amino acids was present. Mutational analysis of ACY1<\/jats:styled-content><\/jats:italic> gene identified the new homozygous c.1001_1001+5del6 mutation, which alters the mRNA<\/jats:styled-content> transcription leading to exon 13 skipping and inclusion of a premature stop codon (p.Lys308Glufs<\/jats:styled-content>*7). A quantitative fluorescent multiplex\u2010polymerase chain reaction (QFM\u2010PCR<\/jats:styled-content>) assay has been set up and confirmed homozygosity of the mutation in the patient's DNA<\/jats:styled-content>. Biochemical analysis showed absence of ACY1<\/jats:styled-content> enzyme activity in the patient's fibroblasts. The structure of the mutated protein has been defined by homology modeling (HM). Our data endorse the hypothesis of a link between this inborn error of metabolism and the neurological manifestations observed in patients with ACY1<\/jats:styled-content> deficiency.<\/jats:p>","DOI":"10.1111\/cge.12297","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T02:30:20Z","timestamp":1381545020000},"page":"367-372","source":"Crossref","is-referenced-by-count":20,"title":["Aminoacylase I deficiency due to ACY1 mRNA<\/scp> exon skipping"],"prefix":"10.1111","volume":"86","author":[{"given":"L.","family":"Ferri","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Pharmacology and Child Health University of Florence Firenze Italy"},{"name":"Paediatric Neurology Unit and Laboratories, Neuroscience Department Meyer Children's Hospital Firenze Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Funghini","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit and Laboratories, Neuroscience Department Meyer Children's Hospital Firenze Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Fioravanti","sequence":"additional","affiliation":[{"name":"Interdisciplinary Research Institute, USR 3078 CNRS Universite' Lille Nord de France, Parc CNRS de la Haute Borne Villeneuve d'Ascq France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.G.","family":"Biondi","sequence":"additional","affiliation":[{"name":"Interdisciplinary Research Institute, USR 3078 CNRS Universite' Lille Nord de France, Parc CNRS de la Haute Borne Villeneuve d'Ascq France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"la Marca","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Pharmacology and Child Health University of Florence Firenze Italy"},{"name":"Paediatric Neurology Unit and Laboratories, Neuroscience Department Meyer Children's Hospital Firenze Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Pharmacology and Child Health University of Florence Firenze Italy"},{"name":"Paediatric Neurology Unit and Laboratories, Neuroscience Department Meyer Children's Hospital Firenze Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.A.","family":"Donati","sequence":"additional","affiliation":[{"name":"Metabolic and Muscular Unit, Neuroscience Department Meyer Children's Hospital Firenze Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Morrone","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Pharmacology and Child Health University of Florence Firenze Italy"},{"name":"Paediatric Neurology Unit and Laboratories, Neuroscience Department Meyer Children's Hospital Firenze Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/500563"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2005.10.126"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aca.2006.04.079"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.1170"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1054-3589(08)61042-X"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-9084(99)00330-2"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2005.04.002"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M304233200"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000264933.56204.e8"},{"key":"e_1_2_6_11_1","first-page":"685","article-title":"The molecular basis 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