{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T15:21:41Z","timestamp":1789658501037,"version":"4.0.1"},"reference-count":82,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"01","funder":[{"name":"The Science and Engineering Research Board (SERB), Government of India","award":["EMEQ\/2019\/000411"],"award-info":[{"award-number":["EMEQ\/2019\/000411"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disorder caused by insufficient biotin metabolism, where it cannot recycle the vitamin biotin. When this deficiency is not treated with supplements, it can lead to severe neurological conditions. Approximately 1 in 60,000 newborns are affected by BTD deficiency. The BTD deficiency causes late-onset biotin-responsive multiple carboxylase deficiency, which leads to acidosis or lactic acidosis, hypoglycemia, and abnormal catabolism. BTD deficiency is of two types based on the amount of BTD Enzyme present in the serum. A wide range of pathogenic mutations in the BTD gene are reported worldwide. Mutations in the BTD gene lead to profound and partial BTD deficiency. Profound BTD deficiency results in a severe pathogenic condition. A high frequency of newborns are affected with the partial deficiency worldwide. They are mostly asymptomatic, but symptoms may appear during stressful conditions such as fasting or viral infections. Several pathogenic mutations are significantly associated with neurological, ophthalmological, and skin problems along with several other clinical features. This review discusses the BTD gene mutation in multiple populations detected with phenotypic features. The molecular-based biomarker screening is necessary for the disease during pregnancy, as it could be helpful for the early identification of BTD deficiency, providing a better treatment strategy. Moreover, implementing newborn screening for the BTD deficiency helps patients prevent several diseases.<\/jats:p>","DOI":"10.1055\/s-0042-1757887","type":"journal-article","created":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T20:01:03Z","timestamp":1667332863000},"page":"001-015","source":"Crossref","is-referenced-by-count":11,"title":["A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype\u2013Phenotype Analysis"],"prefix":"10.53391","volume":"12","author":[{"given":"Balachander","family":"Kannan","sequence":"additional","affiliation":[{"name":"Molecular Biology Lab, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hepzibah Kirubamani","family":"Navamani","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Saveetha Medical College and Hospitals, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijayashree Priyadharsini","family":"Jayaseelan","sequence":"additional","affiliation":[{"name":"Molecular Biology Lab, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paramasivam","family":"Arumugam","sequence":"additional","affiliation":[{"name":"Molecular Biology Lab, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2022,11,1]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0009-8981(96)06396-6","article-title":"Biotinidase and its roles in biotin metabolism","volume":"255","author":"J Hymes","year":"1996","journal-title":"Clin Chim Acta"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/0009-8981(83)90096-7","article-title":"Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency","volume":"131","author":"B Wolf","year":"1983","journal-title":"Clin Chim Acta"},{"key":"ref3","first-page":"5","article-title":"Animal biotinidase","volume":"43","author":"J Pispa","year":"1965","journal-title":"Ann Med Exp Biol Fenn"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1006\/bmme.1995.1059","article-title":"Biotinylation of 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