Abstract
Biyotinidaz eksikliği, nadir görülen otozomal çekinik olarak kalıtılan bir hastalıktır. Erken yenidoğan döneminde tedavi edilmezse ciddi nörolojik kusurlara, metabolik bozukluklara, komaya ve ölüme neden olabilir. Yenidoğanlarda biyotinidaz eksikliği taraması ve biyotin takviyesi ile erken tedavi, semptomların çoğunun ortaya çıkması engellenebilir. Biyotinidaz enzimi, BTD geni tarafından kodlanır. BTD geninde 165'ten fazla mutasyon tanımlanmıştır. Bu olgu bildiriminde Ulusal Yenidoğan Tarama programında tespit edilen, BTD geninde homozigot çift mutasyon saptanan nadir bir tablo sunulmuş olup yeni bir allelik varyant ve genotip bildirilmiştir. Özellikle akraba evliliklerinin sık rastlanıldığı toplumlarda; yaygın görülen mutasyonlar haricinde farklı genetik tabloların da görülebileceği akılda tutulmalıdır.
References
- 1. Canda E, Uçar SK,Çoker M. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Pediatric Health Med Ther 2020;11:127-33.
- 2. Zempleni J, Hassan YI, Wijeratne SS. Biotin and biotinidase deficiency. Expert Rev Endocrinol Metab 2008;3:715-24.
- 3. Baykal T, Hüner G, Sarbat G, Demirkol M. Incidence of biotinidase deficiency in Turkish newborns. Acta Paediatr 1998;87:1102-3.
- 4. Tomar RPS, Vashisth D, Vasudevan R. Biotinidase deficiency. Med J Armed Forces India 2012;68:81-3.
- 5. Tezel B, Dilli D, Bolat H, Sahman H, Ozbas S, Acıcan D, et al. The development and organization of newborn screening programs in Turkey. J Clin Lab Anal 2014;28: 63- 9.
- 6. Zengin Akkus P, Ciki K, Mete Yesil A, Bahadur EI, Karahan S, Ozmert EN, et al. Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening. Eur J Pediatr 2021;180: 217-24.
- 7. Kazanasmaz H, Atas N and Karaca M. Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method. Ann Med Res 2019;26:2306-11.
- 8. Sourmala T,Wick H and Baumgartner E. Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results. Eur J Pediatr 1988; 147:478-80.
- 9. Wolf B. Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab 2010;100:6-13.
- 10. Wolf B. Biotinidase deficiency:“if you have to have an inherited metabolic disease, this is the one to have”. Genet Med 2012;14:565-75.
- 11. Al-Eitan LN, Alqa qa K, Amayreh W, Khasawneh R, Aljamal H, Al-Abed M, et al. Identification and characterization of BTD Gene mutations in jordanian children with biotinidase deficiency. J Pers Med 2020;10: 4.
- 12. Iqbal F, Item CB, Vilaseca MA, Jalan A, Mühl A, Couce ML, et al. The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Mol Genet Metab 2010; 100: 42-5.
- 13. Karaca M , Ozgul RK, Unal O, Yucel Yilmaz D, Kilic M, Hısmı B, et al. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. Eur J Pediatr 2015;174: 1077-84.
- 14. Hesemann J, Anderson C, Chavey J, Raymond K, Matern D, Hertecant J, et al. Double homozygous mutations in profound biotinidase deficiency: A case study. Abstracts/Molecular Genetics and Metabolism 2012;105:273-366.
Abstract
Biotinidase deficiency is a rare autosomal recessive inherited metabolic disorder. If not treated in the early neonatal period, it can cause serious neurological defects, metabolic abnormalities, coma and death. Screening for biotinidase deficiency in newborns and early treatment with free biotin supplementation can prevent all symptoms from occurring. The biotinidase enzyme is encoded by the BTD gene. More than 165 mutations have been identified in the BTD gene. In this case report; a rare case with homozygous double mutation in the BTD gene is presented; and a new allelic variant and genotype is defined. Especially in societies where consanguineous marriages are common; it should be kept in mind that apart from common mutations, different genetic variants may also be seen.
References
- 1. Canda E, Uçar SK,Çoker M. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Pediatric Health Med Ther 2020;11:127-33.
- 2. Zempleni J, Hassan YI, Wijeratne SS. Biotin and biotinidase deficiency. Expert Rev Endocrinol Metab 2008;3:715-24.
- 3. Baykal T, Hüner G, Sarbat G, Demirkol M. Incidence of biotinidase deficiency in Turkish newborns. Acta Paediatr 1998;87:1102-3.
- 4. Tomar RPS, Vashisth D, Vasudevan R. Biotinidase deficiency. Med J Armed Forces India 2012;68:81-3.
- 5. Tezel B, Dilli D, Bolat H, Sahman H, Ozbas S, Acıcan D, et al. The development and organization of newborn screening programs in Turkey. J Clin Lab Anal 2014;28: 63- 9.
- 6. Zengin Akkus P, Ciki K, Mete Yesil A, Bahadur EI, Karahan S, Ozmert EN, et al. Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening. Eur J Pediatr 2021;180: 217-24.
- 7. Kazanasmaz H, Atas N and Karaca M. Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method. Ann Med Res 2019;26:2306-11.
- 8. Sourmala T,Wick H and Baumgartner E. Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results. Eur J Pediatr 1988; 147:478-80.
- 9. Wolf B. Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab 2010;100:6-13.
- 10. Wolf B. Biotinidase deficiency:“if you have to have an inherited metabolic disease, this is the one to have”. Genet Med 2012;14:565-75.
- 11. Al-Eitan LN, Alqa qa K, Amayreh W, Khasawneh R, Aljamal H, Al-Abed M, et al. Identification and characterization of BTD Gene mutations in jordanian children with biotinidase deficiency. J Pers Med 2020;10: 4.
- 12. Iqbal F, Item CB, Vilaseca MA, Jalan A, Mühl A, Couce ML, et al. The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Mol Genet Metab 2010; 100: 42-5.
- 13. Karaca M , Ozgul RK, Unal O, Yucel Yilmaz D, Kilic M, Hısmı B, et al. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. Eur J Pediatr 2015;174: 1077-84.
- 14. Hesemann J, Anderson C, Chavey J, Raymond K, Matern D, Hertecant J, et al. Double homozygous mutations in profound biotinidase deficiency: A case study. Abstracts/Molecular Genetics and Metabolism 2012;105:273-366.
Details
| Primary Language | English |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | CASE REPORTS |
| Authors | |
| Early Pub Date | May 3, 2023 |
| Publication Date | May 29, 2023 |
| Submission Date | March 11, 2022 |
| Published in Issue | Year 2023 Volume: 17 Issue: 3 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.