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 SW۱۷ ۰RE, 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

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 B۱۲ deficiency and it showed promising outcomes.

Child,,, ,،Transcobalamin deficiency,,, ,،mutation