Transcobalamin II Deficiency Can Present without Hematological Manifestations: A Novel TCN2 Gene Variant
Muhammad Matloob Alam, Abdulrhman Alathaibi, Riffat Matloob, Mohammed Ahmed Oshi
Asian Hematology Research Journal · pp. 101–105 · Published 12 Aug 2022
Abstract
Transcobalamin II (TC) deficiency is a rare but serious metabolic disorder. It usually presents in the first year of life with failure to thrive, megaloblastic anemia and pancytopenia. Other features includes hypotonia, ataxia, lethargy, vomiting, diarrhea, mucosal ulceration, recurrent infections, agammaglobulinemia, methylmalonic aciduria and in rare cases, seizures. Besides, clinical presentation of TC deficiency may not be obvious thus leading to complex issues around diagnosis and treatment. Herein, we present TC II deficiency diagnosed in a 14 months old boy who presented with progressive myoclonic seizure, ataxia, truncal hypotonia, without any hematological manifestations and found to have a novel variant in the TCN2 gene.
Cited by 0
No indexed citations yet.
Related research
- Vitamin B12 Deficiency Presenting as Pyrexia of Unknown Origin: A Case Report — shares topic coverage
- Pseudo-Pelger-Huët Anomaly in Megaloblastic Anemia — shares topic coverage
- The Significance of Hematological Parameters Related to Vitamin B12 and Folate Deficiencies — shares topic coverage
- Vitamin B12 Deficiency: Biological Mechanisms, Diagnostic Developments and Evidence-supported Therapeutic Approaches: A Comprehensive Review — shares topic coverage
- Multisystem Involvement in a Rare Case of Histiocytosis Lymphadenopathy Plus Syndrome — shares topic coverage
Article metrics
Real usage data collected on this platform.
0
Page views
0
PDF downloads
0
Outbound clicks
0
Citations
Views by country
Approximate, from request IP at view time — not citizenship or institution. Countries with fewer than 5 views are grouped as "Other".
No views recorded yet.
Traffic sources
Referring site, by host.
No traffic recorded yet.
Views and downloads exclude known bots/crawlers. Citations combines this platform's own DOI-resolved index with each external source's own reported total — see Cited by above for individually listed citing works. Last refreshed 0 seconds ago.