{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T04:28:08Z","timestamp":1786681688439,"version":"build-2736575974"},"reference-count":21,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2026,9,1]]},"abstract":"\n Background:<\/jats:title>\n \n Biotinidase is an enzyme recycling endogenous biotin by hydrolyzing \u03b5-\n N<\/jats:italic>\n -biotinyl lysine (biocytin) to lysine and biotin. Biotin acts as a coenzyme in various carboxylation reactions. Biotinidase deficiency is rare, with an incidence of 1 per 112,271 individuals.\n <\/jats:p>\n <\/jats:sec>\n \n Objectives:<\/jats:title>\n Genetic characterization of a 4-month-old boy born out of a consanguineous marriage presented with cutaneous manifestations, alopecia, developmental delay, hypotonia with absent neck holding, respiratory problems, and biotinidase deficiency.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n \n Biochemical characterization was performed using tandem mass spectrometry and immunofluorescence enzyme assays. Pathogenic genetic variant was identified by Sanger sequencing of the\n BTD<\/jats:italic>\n (biotinidase) gene in a patient and his parents.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n Biochemical characterization indicated elevated methylmalonylcarnitine\/hydroxyisovalerylcarnitine and decreased biotinidase, citrulline, glycine, and ornithine levels, suggesting a profound biotinidase deficiency. Sequencing of\n BTD<\/jats:italic>\n gene indicates the presence of a 7-bp deletion and a 3-bp insertion (98-104del7ins3) in a homozygous state, resulting in a change of amino acid from cystine to phenylalanine at the 33rd position, causing a frameshift and premature amino acid termination at the 68th position.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n \n A 7-bp deletion and a 3-bp insertion (98-104del7ins3) homozygous variation in the\n BTD<\/jats:italic>\n gene segregating in a homozygous recessive manner in the family, causing truncated, nonfunctional biotinidase deficiency in the proband. This is a recurrent mutation and has the potential to be used as a biomarker for screening patients with biotinidase deficiency.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/19450265261469732","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T19:17:40Z","timestamp":1784315860000},"page":"219-224","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir"],"prefix":"10.1177","volume":"30","author":[{"given":"Rama","family":"Sharma","sequence":"first","affiliation":[{"name":"School of Biotechnology, University of Jammu, Jammu, India."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuj","family":"Bhatti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shri Maharaja Gulab Singh Hospital, Jammu, India."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darshpreet","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shri Maharaja Gulab Singh Hospital, Jammu, India."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nisha","family":"Kapoor","sequence":"additional","affiliation":[{"name":"School of Biotechnology, University of Jammu, Jammu, India."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subramaniya","family":"Bharathiraja","sequence":"additional","affiliation":[{"name":"School of Biotechnology, University of Jammu, Jammu, India."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjana","family":"Kaul","sequence":"additional","affiliation":[{"name":"School of Biotechnology, University of Jammu, Jammu, India."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0187-5197","authenticated-orcid":false,"given":"Ankit","family":"Mahajan","sequence":"additional","affiliation":[{"name":"School of Biotechnology, University of Jammu, Jammu, India."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoj Kumar","family":"Dhar","sequence":"additional","affiliation":[{"name":"School of Biotechnology, University of Jammu, Jammu, India."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,17]]},"reference":[{"issue":"11","key":"e_1_3_4_2_1","first-page":"e49197","article-title":"Pharmacological management for pediatric irritable bowel syndrome: A review","volume":"15","author":"Alyasi AS","year":"2023","unstructured":"Alyasi AS, , Altawili MA, , Alabbadi AF, et al. Pharmacological management for pediatric irritable bowel syndrome: A review. Cureus 2023;15(11):e49197.","journal-title":"Cureus"},{"issue":"2","key":"e_1_3_4_3_1","first-page":"107","article-title":"Biotin in man\u2019s nutrition and therapy \u2013 a review","volume":"47","author":"Bonjour JP","year":"1977","unstructured":"Bonjour JP. Biotin in man\u2019s nutrition and therapy \u2013 a review. Int J Vitam Nutr Res 1977;47(2):107\u2013118.","journal-title":"Int J Vitam Nutr Res"},{"key":"e_1_3_4_4_1","first-page":"127","article-title":"Biotinidase deficiency: Prevalence, impact and management strategies","volume":"11","author":"Canda E","year":"2020","unstructured":"Canda E, , Kalkan US, , Coker M. Biotinidase deficiency: Prevalence, impact and management strategies. Pediatric Health Med Ther 2020;11:127\u2013133.","journal-title":"Pediatric Health Med Ther"},{"key":"e_1_3_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)37409-4"},{"key":"e_1_3_4_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1449"},{"key":"e_1_3_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(96)06396-6"},{"key":"e_1_3_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1208"},{"key":"e_1_3_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.12.016"},{"key":"e_1_3_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900760"},{"key":"e_1_3_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200620"},{"issue":"5","key":"e_1_3_4_12_1","first-page":"S1","article-title":"Animal biotinidase","volume":"43","author":"Pispa J","year":"1965","unstructured":"Pispa J. Animal biotinidase. Ann Med Exp Biol Fenn 1965;43(Suppl 5):S1\u2013S39.","journal-title":"Ann Med Exp Biol Fenn"},{"key":"e_1_3_4_13_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005609614443"},{"key":"e_1_3_4_14_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199712000-00020"},{"key":"e_1_3_4_15_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005626102147"},{"key":"e_1_3_4_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800475"},{"key":"e_1_3_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.01.003"},{"key":"e_1_3_4_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.01.003"},{"key":"e_1_3_4_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800660"},{"issue":"2","key":"e_1_3_4_20_1","first-page":"121","article-title":"Biotinidase deficiency: The possible role of biotinidase in the processing of dietary protein-bound biotin","volume":"7","author":"Wolf B","year":"1984","unstructured":"Wolf B, , Heard GS, , McVoy JR, et al. Biotinidase deficiency: The possible role of biotinidase in the processing of dietary protein-bound biotin. J Inherit Metab Dis 1984;7(Suppl 2):121\u2013122.","journal-title":"J Inherit Metab Dis"},{"key":"e_1_3_4_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410180517"},{"key":"e_1_3_4_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(90)84265-I"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19450265261469732","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/19450265261469732","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19450265261469732","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T03:49:10Z","timestamp":1786679350000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/19450265261469732"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,17]]},"references-count":21,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9,1]]}},"alternative-id":["10.1177\/19450265261469732"],"URL":"https:\/\/doi.org\/10.1177\/19450265261469732","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,17]]}}}