Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia

Nikpour, Sara; Eshraghi, Peyman; Ghayoor, Ehsan; Ghaemi, Nosrat; Bagheri, Sepideh; Norouziasl, Samaneh; Lotfi, Mojtaba

doi:10.22038/ijp.2023.72488.5275

Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia

Document Type : case report

Authors

Sara Nikpour ¹

Peyman Eshraghi ¹

Ehsan Ghayoor ²

Nosrat Ghaemi ¹

Sepideh Bagheri ¹

Samaneh Norouziasl ¹

Mojtaba Lotfi ¹

¹ Pediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

² Molecular and Clinical Sciences Institute, St. George&rsquo;s, University of London, Cranmer Terrace, London SW17 0RE, UK

10.22038/ijp.2023.72488.5275

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,,

,،Transcobalamin deficiency,,

,،mutation

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