Title of article :
Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia
Author/Authors :
Nikpour ، Sara Pediatric Endocrinology Department - Akbar Hospital, Faculty of Medicine - Mashhad University of Medical Sciences , Eshraghi ، Peyman Pediatric Endocrinology Department - Akbar Hospital, Faculty of Medicine - Mashhad University of Medical Sciences , Ghayoor ، Ehsan Molecular and Clinical Sciences Institute - University of London , Ghaemi ، Nosrat Pediatric Endocrinology Department - Akbar Hospital, Faculty of Medicine - Mashhad University of Medical Sciences , Bagheri ، Sepideh Pediatric Endocrinology Department - Akbar Hospital, Faculty of Medicine - Mashhad University of Medical Sciences , Norouziasl ، Samaneh Pediatric Endocrinology Department - Akbar Hospital, Faculty of Medicine - Mashhad University of Medical Sciences , Lotfi ، Mojtaba Pediatric Endocrinology Department - Akbar Hospital, Faculty of Medicine - Mashhad University of Medical Sciences
Abstract :
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.
Keywords :
Child , Mutation , Transcobalamin deficiency
Journal title :
International Journal of Pediatrics
Journal title :
International Journal of Pediatrics
