. 2015; 32(4): 317-322 | DOI: 10.4274/Tjh.2014.0154 | |||
Yeni Mutasyonu Olan Dört Transkobalamin II Eksikliği OlgusuSule Unal1, Tony Rupar2, Sevgi Yetgin1, Nese Yarali3, Ali Dursun4, Türkiz Gürsel5, Mualla Cetin11Hacettepe University Faculty of Medicine, Division of Pediatric Hematology, Ankara, Turkey2Victoria Hospital, London Health Sciences Centre, Biochemical Genetics Laboratory, London, Canada 3Ankara Children’s Hematology and Oncology Hospital, Clinic of Pediatric Hematology, Ankara, Turkey 4Hacettepe University Faculty of Medicine, Division of Metabolism and Nutrition, Ankara, Turkey 5Gazi University Faculty of Medicine, Division of Pediatric Hematology, Ankara, Turkey GİRİŞ ve AMAÇ: Transkobalamin II eksikliği nadir bir kalıtsal B12 vitamini bozukluğudur. Defektin B12 vitamininin transportu ile ilgili olması nedeniyle hastalar normal ya da yüksek B12 vitamini düzeylerine eşlik eden yüksek homosistein ve metilmalonik asit düzeylerine sahiptir. Transcobalamin II Deficiency in Four Cases with Novel MutationsSule Unal1, Tony Rupar2, Sevgi Yetgin1, Nese Yarali3, Ali Dursun4, Türkiz Gürsel5, Mualla Cetin11Hacettepe University Faculty of Medicine, Division of Pediatric Hematology, Ankara, Turkey2Victoria Hospital, London Health Sciences Centre, Biochemical Genetics Laboratory, London, Canada 3Ankara Children’s Hematology and Oncology Hospital, Clinic of Pediatric Hematology, Ankara, Turkey 4Hacettepe University Faculty of Medicine, Division of Metabolism and Nutrition, Ankara, Turkey 5Gazi University Faculty of Medicine, Division of Pediatric Hematology, Ankara, Turkey INTRODUCTION: Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels. Sule Unal, Tony Rupar, Sevgi Yetgin, Nese Yarali, Ali Dursun, Türkiz Gürsel, Mualla Cetin. Transcobalamin II Deficiency in Four Cases with Novel Mutations. . 2015; 32(4): 317-322 Sorumlu Yazar: Sule Unal, Türkiye |
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