1. Transcobalamin deficiency — a rare genetic defect in transportation of cobalamin; case report.
- Author
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Iqbal, Neelofar, Meghani, Marium Ali, Khalid, Wajeeha, Ansari, Ali Hussain, Ansari, Muhammad Usman Hussain, and Ansari, Saqib Hussain
- Subjects
VITAMIN B12 ,NUCLEOTIDE sequencing ,METHYLMALONIC acid ,GLYCOGEN storage disease type II ,DISEASE relapse ,PANCYTOPENIA - Abstract
Background: Vitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive disorder that results in unavailability of cobalamin in cells and accumulation of homocysteine and methylmalonic acid. Case Report: We report a case of a 2-year-old male child with persistent pancytopenia, recurrent infections, and megaloblastic anemia. Next-generation sequencing identified a novel variant in exon 8 of TCN2 gene. Substantial improvement has been observed following administration of high doses of parenteral methylcobalamin. Conclusion: In patients with unresolved pancytopenia and megaloblastic anemia, Transcobalamin deficiency should be investigated and treated promptly to prevent any irreversible and harmful outcome. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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