{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:59:55Z","timestamp":1762102795111,"version":"3.41.2"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,2]],"date-time":"2023-03-02T00:00:00Z","timestamp":1677715200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Introduction:<\/jats:bold> Menkes disease is an X\u2010linked recessive condition caused by mutations in the <jats:italic>ATP7A<\/jats:italic> gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous variant in the <jats:italic>ACY1<\/jats:italic> gene, characterized by increased urinary excretion of specific N-acetyl amino acids.<\/jats:p><jats:p><jats:bold>Case presentation:<\/jats:bold> We report an infant with neurological findings such as seizures, neurodevelopmental delay and hypotonia. Metabolic screening showed low serum copper and ceruloplasmin, and increased urinary excretion of several N-acetylated amino acids. Whole-exome sequencing analysis (WES) revealed the novel <jats:italic>de novo<\/jats:italic> variant c.3642_3649dup (p.Ala1217Aspfs*2) in the <jats:italic>ATP7A<\/jats:italic> gene, leading to a diagnosis of Menkes disease, and the simultaneous presence of the homozygous <jats:italic>ACY1<\/jats:italic> variant c.1057C&amp;gt;T (p.Arg353Cys) causative of Aminoacylase-1 deficiency.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> Our patient had two rare conditions with different treatment courses but overlapping clinical features. The identified novel <jats:italic>ATP7A<\/jats:italic> mutation associated with Menkes disease expands the <jats:italic>ATP7A<\/jats:italic> gene spectrum.<\/jats:p>","DOI":"10.3389\/fgene.2023.1077625","type":"journal-article","created":{"date-parts":[[2023,3,2]],"date-time":"2023-03-02T04:50:52Z","timestamp":1677732652000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Menkes disease complicated by concurrent ACY1 deficiency: A case report"],"prefix":"10.3389","volume":"14","author":[{"given":"Alessia","family":"Mauri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Assunta","family":"Saielli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Alfei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Marchetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Cattaneo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Di Lauro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Antonelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisella","family":"Alberti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Bonaventura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierangelo","family":"Veggiotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigina","family":"Spaccini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Cereda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,3,2]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1016\/j.braindev.2018.03.009","article-title":"Four years follow up of ACY1 deficient patient and pedigree study","volume":"40","author":"Alessandr\u00ec","year":"2018","journal-title":"Brain & Dev."},{"key":"B2","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1002\/ncp.10328","article-title":"Copper deficiency: Causes, manifestations, and treatment","volume":"34","author":"Altarelli","year":"2019","journal-title":"Nutr. 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