{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T07:37:10Z","timestamp":1767771430166,"version":"build-2238731810"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T00:00:00Z","timestamp":1747872000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T00:00:00Z","timestamp":1747872000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100009367","name":"Mansoura University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100009367","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Peroxisomal disorders (PDs) are a diverse group of inherited conditions arising from impaired function of a specific peroxisomal enzyme, metabolite transporter, or defect in the peroxisome biogenesis system. Peroxisomal D-bifunctional protein (DBP) deficiency is generally classified as a Zellweger-like syndrome. This disorder is caused by mutations in the\n                    <jats:italic>HSD17B4<\/jats:italic>\n                    gene, and only a limited number of confirmed cases have been reported to date.\n                  <\/jats:p>\n                  <jats:p>\n                    The authors report case of a 6-mo-old female infant presenting with neonatal-onset intractable seizures, characteristic facial features, hypotonia, and progressive hepatomegaly. An acylcarnitine profile revealed elevated very long-chain fatty acids, prompting the initiation of a medium-chain triglyceride (MCT) formula. Remarkably, this treatment led to seizure control, improved muscle tone, and a reduction in liver size. Whole exome sequencing identified a homozygous missense mutation in the\n                    <jats:italic>HSD17B4<\/jats:italic>\n                    gene (c.1444A&gt;T).\n                  <\/jats:p>\n                  <jats:p>This case suggests that MCT-containing formulas may offer therapeutic potential in the treatment of D-bifunctional protein deficiency.<\/jats:p>","DOI":"10.1007\/s12098-025-05582-y","type":"journal-article","created":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T03:10:55Z","timestamp":1747883455000},"page":"860-862","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Neonatal Onset Seizures and Hypotonia Due to D-Bifunctional Protein Deficiency"],"prefix":"10.1007","volume":"92","author":[{"given":"Sohier","family":"Yahia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dina","family":"Ghozzy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yahya","family":"Wahba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3632-6410","authenticated-orcid":false,"given":"Zahraa","family":"Abdelmoneim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,5,22]]},"reference":[{"key":"5582_CR1","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1097\/AUD.0000000000001126","volume":"43","author":"JC Lee","year":"2022","unstructured":"Lee JC, Yergeau K, Kawai K, Braverman N, G\u00e9l\u00e9oc GSG. A retrospective study of hearing loss in patients diagnosed with peroxisome biogenesis disorders in the zellweger spectrum. Ear Hear. 2022;43:582\u201391.","journal-title":"Ear Hear"},{"key":"5582_CR2","doi-asserted-by":"crossref","unstructured":"El Shafie AM, El-Gendy FM, Allahony DM, et al. Development of LMS and Z score growth references for Egyptian children from birth up to 5 years. Front Pediatr. 2020;8:598499.","DOI":"10.3389\/fped.2020.598499"},{"key":"5582_CR3","doi-asserted-by":"publisher","first-page":"1517","DOI":"10.1002\/humu.23626","volume":"39","author":"AN Abou Tayoun","year":"2018","unstructured":"Abou Tayoun AN, Pesaran T, DiStefano MT, et al. ClinGen sequence variant interpretation working group. Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion. Hum Mutat. 2018;39:1517\u201324.","journal-title":"Hum Mutat"},{"key":"5582_CR4","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.1002\/humu.23642","volume":"39","author":"R Ghosh","year":"2018","unstructured":"Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG. ClinGen sequence variant interpretation working group. Updated recommendation for the benign stand-alone ACMG\/AMP criterion. Hum Mutat. 2018;39:1525\u201330.","journal-title":"Hum Mutat"},{"key":"5582_CR5","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1159\/000529126","volume":"96","author":"C Gagnon","year":"2023","unstructured":"Gagnon C, Hurst ACE, Ashraf AP. Adrenal insufficiency in peroxisomal disorders: A single institution case series. Horm Res Paediatr. 2023;96:439\u201345.","journal-title":"Horm Res Paediatr"},{"key":"5582_CR6","doi-asserted-by":"publisher","first-page":"2635","DOI":"10.3390\/cells11172635","volume":"11","author":"OM D\u2019Annibale","year":"2022","unstructured":"D\u2019Annibale OM, Phua YL, Van\u2019t Land C, et al. Treatment of VLCAD-deficient patient fibroblasts with peroxisome proliferator-activated receptor \u0394 agonist improves cellular bioenergetics. Cells. 2022;11:2635.","journal-title":"Cells"}],"updated-by":[{"DOI":"10.1007\/s12098-025-05616-5","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,6,8]],"date-time":"2025-06-08T00:00:00Z","timestamp":1749340800000}}],"container-title":["Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-025-05582-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12098-025-05582-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-025-05582-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T15:13:01Z","timestamp":1757171581000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12098-025-05582-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,22]]},"references-count":6,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["5582"],"URL":"https:\/\/doi.org\/10.1007\/s12098-025-05582-y","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,22]]},"assertion":[{"value":"20 December 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 May 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2025","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Update","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The original online version of this article was revised because the author list included a duplicate entry for Sohier Yahia.","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 June 2025","order":7,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":8,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":9,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s12098-025-05616-5","URL":"https:\/\/doi.org\/10.1007\/s12098-025-05616-5","order":10,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}