TY - JOUR T1 - Biotinidase Deficiency as a Regional Problem and Solution Suggestions AU - Ozer, Isil AU - Gümüş, Abdullah AU - Mercan, Sevcan PY - 2025 DA - October Y2 - 2025 JF - Kafkas Journal of Medical Sciences JO - KAFKAS TIP BİL DERG PB - Kafkas Üniversitesi WT - DergiPark SN - 2146-2631 SP - 108 EP - 111 VL - 15 IS - EK-1 LA - en AB - Biotinidase enzyme is the enzyme that activates biotin, which is the cofactor of 4-carboxylase enzymes in our body. After its deficiency began to be treated in 1971, it was screened in the 1980 s. A local newborn study was conducted in our country under the leadership of the Istanbul Faculty of Medicine between 1991 and 2005, and the first data were obtained. As a result of this study, it was shown that biotinidase deficiency, which is known to occur in one in 60,000 people worldwide, is seen at a frequency of one in 11,000. Biotinidase newborn screening was added to the national screening program in our country in 2012, with a reported frequency of one in 5500. National screening data supported Istanbul University, revealing that the most common region was Northeastern Anatolia, with the provinces having the highest number of patients being Ardahan, Kars, and Iğdır. The number of centers that can perform metabolic follow-up of diagnosed patients in the region is insufficient. It was decided to write this article to highlight the need to establish a “Biotinidase Deficiency Research Institute” affiliated with Kafkas University in Kars, one of the provinces with the highest incidence of patients, to provide an on-site solution to the problem. KW - biotinidase deficiency KW - newborn screening KW - hereditary deafness KW - hereditary blindness; demyelinating diseases; alopecia; sudden infant death syndrome; genetic diseases CR - 1. Sweetman L, Nyhan W L. Inheritable Biotin-Treatable Disorders and Associated Phenomena Annu Rev Nutr. 1986;6:317–343. CR - 2. Dunkel G, Scriver C, Clow C, Melancon S, Lemieux B, Grenier A, Laberge C Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. J Inherit Metab Dis. 1989;12:131–138. CR - 3. Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol. 1985;18(5):614–617. CR - 4. Baykal T, Gokcay G, Gokdemir Y, Demir F, Seckin Y, Demirkol M, Jensen K, Wolf B. Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. J Inherit Metab Dis. 2005;28(6):903–912. CR - 5. Mock DM. Skin manifestations of biotin deficiency. Semin Dermatol. 1991;10(4):296–302. CR - 6. Salbert BA, Pellock JM, Wolf B. Characterization of seizures associated with biotinidase deficiency. Neurology. 1993;43(7):1351–1355. CR - 7. Karachaliou CE, Livaniou E. Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives. Int J Mol Sci. 2024;25:6578. CR - 8. Baumgartner ER, Suormala T, Wick H, Bausch J, Bonjour JP. Biotinidase deficiency: factors responsible for the increased biotin requirement. J Inherit Metab Dis. 1985;8 Suppl 1:59–64. CR - 9. Genc GA, Sivri-Kalkanoğlu HS, Dursun A, Aydın HI, Tokatlı A, Sennaroglu L, Belgin E, Wolf B, Coşkun T. Audiologic f indings in children with biotinidase deficiency in Turkey. Int J Ped Otorhinolaryngology. 2007;71:333–339. CR - 10. Sivri Kalkanoğlu SH, Genç GA, Tokatlı A, et al. Hearing loss in biotinidase deficiency: Genotype - phenotype correlation. J Pediatr. 2007;150:439–442. CR - 11. Burton BK, Roach ES, Wolf B, Weissbecker KA. Sudden death associated with biotinidase deficiency. Pediatrics 1987;79(3):482–483. CR - 12. Bousounis DP, Camfield PR, Wolf B. Reversal of brain atrophy with biotin treatment in biotinidase deficiency. Neuropediatrics. 1993;24(4):214–217. CR - 13. Riudor E, Vilaseca MA, Briones P, et al. Requirement of high biotin doses in a case of biotinidase deficiency. J Inherit Metab Dis. 1989;12(3):338–9. CR - 14. Heard GS, Secor McVoy JR, Wolf. A Screening Method for Biotinidase Deficiency in Newborns. Clin. Chem. 1984;30(1):125–127. CR - 15. Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J of Inherit Metab Dis. 1991;14(6):928–931. CR - 16. Hoffman TL, Simon EM, Ficicioglu C. Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result European Journal of Pediatrics. 2005;164(5):298–301. CR - 17. Pomponio RJ, Reynolds TR, Cole H, et al. Mutational “hotspot in the human biotinidase gene as a cause of biotinidase deficiency. Nature Genet. 1995;11:96–98. CR - 18. Swango KL, Demirkol M, Huner G, Pronicka E, SykutCegielska J, Schulze A, Mayatepek E, Wolf B. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Hum Genet. 1998;102(5):571–575. CR - 19. Pomponio RJ, Coskun T, Demirkol M, Tokatlı A, Ozalp I, Huner G, Baykal T, Wolf B. Novel mutations cause biotinidase deficiency in Turkish children. J. Inherit. Metab. Dis. 2000;23:120–128. CR - 20. Pindolia K, Jordan M, Wolf B. Analysis of Mutations Causing Biotinidase Deficiency. Hum Mutat,. 2010;31:983–991. CR - 21. Wolf B, Jensen K, Huner G, et al. Seventeen novel mutations that cause profound biotinidase deficiency. Molecular Genetics and Metabolism 2002:77:108–111. CR - 22. Özer I, Baykal T, Gökçay G, Çelik Ş, Demirkol M, 50. Millipediatri Kongresi Fin Türk Pediatri Günleri konferansı dahilinde “50. Millipediatri Kongresi Fin Türk Pediatri Günleri Bilimsel program Konuşma özetleri serbest ve poster özetleri” bildiri kitapçığındaki “Biyotinidaz eksikliği yenidoğan tarama programına alınmalı mı?”, 14 pp., Antalya, Türkiye, Kasım 2006. CR - 23. Ozer I, Baykal T, Gokcay G, Kose R, Celik S, Demirkol M. The Results of Local Newborn Screening Study Pioneered Nationwide Screening. J Inherit Metab Dis. 2008;31(Suppl 1):26. CR - 24. Demirkol M, Çakır E, Güneş D, Karaca M, Balcı MC, Türkoğlu Ü, Ozer I, Gökçay G. Profound biotinidase deficiency: natural course of the disease and impact of the treatment in adult patients. JIMD. 2015;38(1);349:263. CR - 25. Gadimova N. Azerbaijan’s most widespread genetic disorders are named. Azernews 19 June 2013. https://www.azernews.az/ nation/55467.html UR - https://dergipark.org.tr/tr/pub/kaftbd/issue//1807939 L1 - https://dergipark.org.tr/tr/download/article-file/5349237 ER -