{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T10:59:56Z","timestamp":1790593196603,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:00:00Z","timestamp":1789689600000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["514177501"],"award-info":[{"award-number":["514177501"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["528562393\u2010FIP26"],"award-info":[{"award-number":["528562393\u2010FIP26"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["538669957"],"award-info":[{"award-number":["538669957"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["558545467"],"award-info":[{"award-number":["558545467"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Aminoacylase 1 (ACY1) deficiency is a rare autosomal recessive inborn error of metabolism, characterised by accumulation of\n                    <jats:italic>N<\/jats:italic>\n                    \u2010acetyl\u2010\n                    <jats:sc>l<\/jats:sc>\n                    \u2010amino acids in urine and highly variable clinical presentations. In contrast, the abhydrolase domain containing 14A (\n                    <jats:italic>ABHD14A<\/jats:italic>\n                    ) has been suggested to play a role in various metabolic processes and may be linked to diseases, although its precise function remains unclear. Importantly, ABHD14A is known to form a read\u2010through transcript with ACY1, indicating the possibility that variants in ABHD14A may influence ACY1\u2010related phenotypes. Here, we report a patient with suspected ACY1 deficiency, carrying a heterozygous variant in the\n                    <jats:italic>ACY1<\/jats:italic>\n                    gene (c.1178G&gt;A) together with a variant in\n                    <jats:italic>ABHD14A<\/jats:italic>\n                    (c.95G&gt;A). The aim of this study was to functionally assess ACY1 activity and to investigate whether the\n                    <jats:italic>ABHD14A<\/jats:italic>\n                    variant affects ACY1 expression or enzyme activity. To this end, ACY1 enzyme activity was measured in patient\u2010derived lymphocytes, and overexpression experiments in HEK293 cells were performed to analyse ACY1 enzyme activity as well as mRNA and protein levels of the patient\u2010specific variants. We show that the patient\u2010derived variant in\n                    <jats:italic>ABHD14A<\/jats:italic>\n                    does not affect ACY1 expression or enzyme activity. In addition, our report provides the first experimental evidence that the\n                    <jats:italic>ABHD14A<\/jats:italic>\n                    \u2013\n                    <jats:italic>ACY1<\/jats:italic>\n                    read\u2010through does not lead to a functional detectable protein, supporting the hypothesis of nonsense\u2010mediated RNA decay.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70124","type":"journal-article","created":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:18:17Z","timestamp":1789784297000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Variant in Abhydrolase Domain Containing\n                    <scp>14A<\/scp>\n                    (\n                    <i>ABHD14A<\/i>\n                    ) and the Suspicion of Aminoacylase 1 (\n                    <i>ACY1<\/i>\n                    ) Deficiency"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8198-7434","authenticated-orcid":false,"given":"Lil","family":"Klaas","sequence":"first","affiliation":[{"name":"Research Group Inborn Errors of Metabolism, Department of Natural Sciences, Institute for Functional Gene Analytics (IFGA) Bonn\u2010Rhein\u2010Sieg University of Applied Sciences  Rheinbach Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3212-1424","authenticated-orcid":false,"given":"Estrella","family":"L\u00f3pez\u2010Mart\u00edn","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6834-350X","authenticated-orcid":false,"given":"Beatriz","family":"Martinez\u2010Delgado","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII)  Madrid Spain"},{"name":"CIBER of Rare Diseases (CIBERER) Instituto de Salud Carlos III (ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8372-4180","authenticated-orcid":false,"given":"Manuel Posada de la","family":"Paz","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2249-246X","authenticated-orcid":false,"given":"Antonia","family":"Ribes","sequence":"additional","affiliation":[{"name":"Institut de Investigacions Biom\u00e8diques August Pi\u2010Sunyer (IDIBAPS), Hospital Cl\u00ednic University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2903-4872","authenticated-orcid":false,"given":"J\u00f6rn Oliver","family":"Sass","sequence":"additional","affiliation":[{"name":"Research Group Inborn Errors of Metabolism, Department of Natural Sciences, Institute for Functional Gene Analytics (IFGA) Bonn\u2010Rhein\u2010Sieg University of Applied Sciences  Rheinbach Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,18]]},"reference":[{"key":"e_1_2_12_2_1","unstructured":"National Center for Biotechnology 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