Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia
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 Transcoba...
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| Format: | Article |
| Language: | English |
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Mashhad University of Medical Sciences
2023-07-01
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| Series: | International Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://ijp.mums.ac.ir/article_22670_1b0e8648c37444294938c26ab5bcabc6.pdf |
| _version_ | 1797705274357710848 |
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| author | Sara Nikpour Peyman Eshraghi Ehsan Ghayoor Nosrat Ghaemi Sepideh Bagheri Samaneh Norouziasl Mojtaba Lotfi |
| author_facet | Sara Nikpour Peyman Eshraghi Ehsan Ghayoor Nosrat Ghaemi Sepideh Bagheri Samaneh Norouziasl Mojtaba Lotfi |
| author_sort | Sara Nikpour |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T05:33:42Z |
| format | Article |
| id | doaj.art-a7531d3465954cc9b9e15ae7a05f824a |
| institution | Directory Open Access Journal |
| issn | 2345-5047 2345-5055 |
| language | English |
| last_indexed | 2024-03-12T05:33:42Z |
| publishDate | 2023-07-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | International Journal of Pediatrics |
| spelling | doaj.art-a7531d3465954cc9b9e15ae7a05f824a2023-09-03T06:33:51ZengMashhad University of Medical SciencesInternational Journal of Pediatrics2345-50472345-50552023-07-01117180991810310.22038/ijp.2023.72488.527522670Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic AcademiaSara Nikpour0Peyman Eshraghi1Ehsan Ghayoor2Nosrat Ghaemi3Sepideh Bagheri4Samaneh Norouziasl5Mojtaba Lotfi6Pediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranPediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranMolecular and Clinical Sciences Institute, St. George’s, University of London, Cranmer Terrace, London SW17 0RE, UKPediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranPediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranPediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranPediatric Endocrinology Department, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranTranscobalamin 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.https://ijp.mums.ac.ir/article_22670_1b0e8648c37444294938c26ab5bcabc6.pdfchild,,,،transcobalamin deficiency,,,،mutation |
| spellingShingle | Sara Nikpour Peyman Eshraghi Ehsan Ghayoor Nosrat Ghaemi Sepideh Bagheri Samaneh Norouziasl Mojtaba Lotfi Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia International Journal of Pediatrics child,, ,،transcobalamin deficiency,, ,،mutation |
| title | Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia |
| title_full | Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia |
| title_fullStr | Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia |
| title_full_unstemmed | Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia |
| title_short | Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia |
| title_sort | transcobalamin deficiency with the mutation of tcn2 in children with the primary diagnosis of methylmalonic academia |
| topic | child,, ,،transcobalamin deficiency,, ,،mutation |
| url | https://ijp.mums.ac.ir/article_22670_1b0e8648c37444294938c26ab5bcabc6.pdf |
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