International Journal of Pediatrics، جلد ۱۱، شماره ۷، صفحات ۱۸۰۹۹-۱۸۱۰۳
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عنوان انگلیسی Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia
چکیده انگلیسی مقاله Transcobalamin deficiency as a rare autosomal recessive disorder and methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism. Based on the common presentation of methylmalonic academia and Transcobalamin deficiency, in this case report, we presented rare cases of Transcobalamin deficiency in children with the primary diagnosis of methylmalonic academia. As the genetic test indicated the definite diagnosis, we fortunately treated our patient based on the genetic result to solve B12 deficiency and it showed promising outcomes.
کلیدواژه‌های انگلیسی مقاله Child,,, ,,Transcobalamin deficiency,,, ,,mutation
نویسندگان مقاله | Sara Nikpour
Pediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Peyman Eshraghi
Pediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Ehsan Ghayoor
Molecular and Clinical Sciences Institute, St. George’s, University of London, Cranmer Terrace, London SW17 0RE, UK


| Nosrat Ghaemi
Pediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Sepideh Bagheri
Pediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Samaneh Norouziasl
Pediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Mojtaba Lotfi
Pediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
نشانی اینترنتی https://ijp.mums.ac.ir/article_22670.html
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نوع مقاله منتشر شده case report
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