{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T06:25:52Z","timestamp":1787120752471,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T00:00:00Z","timestamp":1782172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T00:00:00Z","timestamp":1782172800000},"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":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life\u2010threatening metabolic crises. We report a 4\u2010month\u2010old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe metabolic acidosis, initially mimicking septicemia. Urine organic acid investigation showed elevated levels of 3\u2010hydroxyisovaleric acid, 3\u2010methylcrotonylglycine, 3\u2010hydroxypropionic acid, methylcitrate, and lactate that lead towards MCD. This diagnosis remains unconfirmed, as confirmatory testing (serum biotinidase activity and genetic analysis) was not available at our center. Early initiation of biotin (10\u2009mg\/day) led to rapid clinical and biochemical recovery. This particular case depicts the importance of biotin\u2010responsive metabolic disorders in the first year of a child presenting with the classic triad of seizures, dermatitis, and alopecia with metabolic acidosis. Early recognition and prompt initiation of biotin therapy can result in rapid clinical recovery. Timely diagnosis is crucial to prevent avoidable morbidity and long\u2010term neurological sequelae. This case highlights the importance of considering MCD in children. In the first year of life, unexplained metabolic acidosis as timely treatment can be lifesaving.<\/jats:p>","DOI":"10.1002\/ccr3.72990","type":"journal-article","created":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T09:47:14Z","timestamp":1782208034000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis\u2010Like Features: A Case Report and Literature Review"],"prefix":"10.1002","volume":"14","author":[{"given":"Touqeer","family":"Rehman","sequence":"first","affiliation":[{"name":"Ayub Medical College  Abbottabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riyan","family":"Saeed","sequence":"additional","affiliation":[{"name":"Nowshera Medical College  Nowshera Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Ahmed Akif","family":"Rauf","sequence":"additional","affiliation":[{"name":"Abbottabad International Medical College  Abbottabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luqman","family":"Asif","sequence":"additional","affiliation":[{"name":"Medical Officer, Qazi Hussain Ahmed Medical Complex  Nowshera Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Junaid","sequence":"additional","affiliation":[{"name":"Khyber Medical College  Peshawar Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muddassir","family":"Khalid","sequence":"additional","affiliation":[{"name":"Department of Medicine Nishtar Medical University  Multan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8791-9583","authenticated-orcid":false,"given":"Rao Nouman","family":"Ali","sequence":"additional","affiliation":[{"name":"Consultant Urologist, District Headquarter Hospital  Khanewal Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2423-1546","authenticated-orcid":false,"given":"Umair","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Pharmacy University of Swabi  Swabi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7441-9135","authenticated-orcid":false,"given":"Fred","family":"Segawa","sequence":"additional","affiliation":[{"name":"Department of Medicine Makerere University College of Health Sciences  Kampala Uganda"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,23]]},"reference":[{"key":"e_1_2_20_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.6"},{"key":"e_1_2_20_3_1","volume-title":"StatPearls","author":"Woodliff B.","year":"2025"},{"key":"e_1_2_20_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.01.003"},{"key":"e_1_2_20_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20204"},{"key":"e_1_2_20_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.06.001"},{"key":"e_1_2_20_7_1","first-page":"127","article-title":"Biotinidase Deficiency: Prevalence, Impact and Management Strategies","volume":"11","author":"Canda E.","year":"2020","journal-title":"Pediatric Health, Medicine and Therapeutics"},{"key":"e_1_2_20_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21303"},{"key":"e_1_2_20_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410180517"},{"key":"e_1_2_20_10_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_20_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2004.tb00509.x"},{"key":"e_1_2_20_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1591"},{"issue":"5","key":"e_1_2_20_13_1","first-page":"377","article-title":"Multiple Carboxylase Deficiency: Inherited and Acquired Disorders of Biotin Metabolism","volume":"67","author":"Baumgartner E. R.","year":"1997","journal-title":"International Journal for Vitamin and Nutrition Research"},{"key":"e_1_2_20_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1987.01660360146027"},{"issue":"1","key":"e_1_2_20_15_1","first-page":"95","article-title":"Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures","volume":"31","author":"Fatima S.","year":"2021","journal-title":"Journal of the College of Physicians and Surgeons\u2013Pakistan"},{"key":"e_1_2_20_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.8.1107"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72990","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.72990","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72990","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T05:35:30Z","timestamp":1787117730000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.72990"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,23]]},"references-count":15,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/ccr3.72990"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.72990","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,23]]},"assertion":[{"value":"2026-01-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e72990"}}