Biotidinaz eksikliği: Olgu Sunumu

Öz

Biotinidaz eksikliği biotin metabolizmasının bir bozukluğu olup nörolojik belirtiler, deri bulguları ve organik asidüri ile karakterizedir. Bu çalışmada koma tablosunda başvuran ciddi biotinidaz eksikliği olan dört aylık erkek bebek sunulmaktadır. Biotinidaz eksikliği hem idrar organik asit analizi hem de serum biotinidaz aktivitesi ölçümü ile doğrulanmıştır

Anahtar Kelimeler

• Biotinidaz eksikliği,biotinidaz aktivitesi,çocuk nörolojisi

Biotinidase deficiency: A case report

Öz

Biotinidase deficiency is a disorder of biotin metabolism and most symptomatic patients with biotinidase deficiency have both neurologic and cutaneous symptoms and typical organic aciduria. We report the case of a child with severe biotinidase deficiency presenting coma. Biotinidase deficiency was considered and was confirmed by both urine organic acid analysis and biotinidase activity measurement

Anahtar Kelimeler

• Biotinidase deficiency,biotinidase activity,pediatric neurology

Kaynakça

1. Wolf B, Heard GS, Weissbecker KA, et al. Biotinidase deficiency: initial clinical features and and rapid diagnosis. Ann Neurol, 1985;18:614-7.
2. Rezvani I and Rosenblatt DS. Valine, leucine, isoleucine, and related organic acidemias. In: Behrman RE, Kleigman R, Jenson HB, editors. Nelson textbook of pediatrics 17th ed. Philadelphia: W.B. Saunders, 2003: p.409-18.
3. Gulati S, Passi GR, Kumar A, et al. Biotinidase deficiency--a treatable entity. Indian J Pediatr, 2000;67(6):464-6.
4. Wolf B. Biotinidase Deficiency: New Directions and Practical Concerns. Curr Treat Options Neurol, 2003;5(4):321-8.
5. Baykal T, Huner G, Sarbat G, et al. Incidence of biotinidase deficiency in Turkish newborns. Acta Paediatr, 1998;87(10):1102-3.
6. Hymes J, Stanley CM, Wolf B. Mutations in BTD causing biotinidase deficiency. Hum Mutat, 2001;18(5):375-81.
7. Pomponio RJ, Coskun T, M Demirkol M, et al. Novel mutations cause biotinidase deficiency in Turkish children. J Inherit Metab Dis, 2000; 23(2):120-8.
8. Lyon G, Adams RD, Kolodny EH. Neurology of hereditary metabolic diseases of children. Second ed. New York: McGraw-Hill, 1996:76-8.

9. Pomponio RJ, Hymes J, Pandya A, et al.
10. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. Prenat Diagn, 1998;18(2):117-22.