{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T21:30:39Z","timestamp":1769808639463,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T00:00:00Z","timestamp":1765324800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T00:00:00Z","timestamp":1765324800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Holocarboxylase synthetase deficiency is an autosomal recessive inborn error of metabolism characterised by life\u2010threatening metabolic acidosis, ketoacidosis and hyperammonaemia through reduced biotin\u2010dependent carboxylase activity. We report the presentation of a Polynesian neonate with severe metabolic acidosis secondary to holocarboxylase synthetase deficiency with the development of cholestatic liver disease thought to be secondary to holocarboxylase synthetase deficiency. This is only the second reported case of holocarboxylase synthetase deficiency associated with cholestatic liver disease. Both of these cases were a result of the same homozygous c.647T&gt;G L216R pathogenic variants in the\n                    <jats:italic>HLCS<\/jats:italic>\n                    gene suggesting a possible genotype\u2013phenotype correlation and broadening the phenotypic understanding of this disease.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70051","type":"journal-article","created":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T13:46:42Z","timestamp":1765374402000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0419-2326","authenticated-orcid":false,"given":"Sophie","family":"Manoy","sequence":"first","affiliation":[{"name":"Department of Metabolic Medicine Queensland Children's Hospital  Brisbane Australia"},{"name":"School of Medicine University of Queensland  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0610-9026","authenticated-orcid":false,"given":"Claire","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Queensland Children's Hospital  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6413-8231","authenticated-orcid":false,"given":"Matthew","family":"Lynch","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Queensland Children's Hospital  Brisbane Australia"},{"name":"School of Medicine University of Queensland  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6751-897X","authenticated-orcid":false,"given":"Tahlee","family":"Minto","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Queensland Children's Hospital  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelvin","family":"Choo","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery Queensland Children's Hospital  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9578-1633","authenticated-orcid":false,"given":"Carolyn","family":"Bursle","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Queensland Children's Hospital  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5479-7359","authenticated-orcid":false,"given":"Michelle","family":"Lipke","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Queensland Children's Hospital  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3778-2101","authenticated-orcid":false,"given":"Jim","family":"McGill","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology Royal Women's and Brisbane Hospital  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2558-7456","authenticated-orcid":false,"given":"Anita","family":"Inwood","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Queensland Children's Hospital  Brisbane Australia"},{"name":"School of Nursing and Social Work University of Queensland  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6303-6471","authenticated-orcid":false,"given":"David","family":"Coman","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Queensland Children's Hospital  Brisbane Australia"},{"name":"School of Medicine University of Queensland  Brisbane Australia"},{"name":"School of Medicine Griffith University  Gold Coast Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,10]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100603"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20766"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050927"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(99)01438-3"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799223"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380070008"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005485500096"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799165"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050004"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799754"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0736-8046.2004.21308.x"},{"key":"e_1_2_11_13_1","first-page":"699","article-title":"The Biotin\u2010Dependent Carboxulase Deficiencies","volume":"34","author":"Wolf B.","year":"1982","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.09.006"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.03.006"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00091-X"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2016_9"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.12.016"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199902)19:2<108::AID-PD476>3.0.CO;2-E"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2013_252"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-015-3492-8"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1053\/siny.2001.0086"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70051","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.70051","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70051","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:00:59Z","timestamp":1769601659000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.70051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,10]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/jmd2.70051"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.70051","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,10]]},"assertion":[{"value":"2025-06-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70051"}}