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transcobalamin deficiency with the mutation of tcn2 in children with the primary diagnosis of methylmalonic academia
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نویسنده
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nikpour sara ,lotfi mojtaba ,norouziasl samaneh ,ghaemi nosrat ,ghayoor ehsan ,eshraghi peyman ,bagheri sepideh
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منبع
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journal of pediatric perspectives - 2023 - دوره : 11 - شماره : 7 - صفحه:18099 -18103
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چکیده
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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.
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کلیدواژه
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child ,mutation ,transcobalamin deficiency
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آدرس
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mashhad university of medical sciences, akbar hospital, faculty of medicine, pediatric endocrinology department, iran, mashhad university of medical sciences, akbar hospital, faculty of medicine, pediatric endocrinology department, iran, mashhad university of medical sciences, akbar hospital, faculty of medicine, pediatric endocrinology department, iran, mashhad university of medical sciences, akbar hospital, faculty of medicine, pediatric endocrinology department, iran, university of london, molecular and clinical sciences institute, uk, mashhad university of medical sciences, akbar hospital, faculty of medicine, pediatric endocrinology department, iran, mashhad university of medical sciences, akbar hospital, faculty of medicine, pediatric endocrinology department, iran
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پست الکترونیکی
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bagheris@mums.ac.ir
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Authors
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