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Transcobalamin II Deficiency: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Transcobalamin II deficiency with low vitamin B12 levels associated with a novel variant in the TCN2 gene
Kaushalya Pussagoda et al., Sri Lanka Journal of Child Health (5 September 2026)
https://doi.org/10.4038/sljch.v55i3.11637
- 2.
Myelodysplasia uncovering transcobalamin deficiency.
Al Sulaimi K et al. (18 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42613130/
- 3.
Transcobalamin II deficiency mimicking myelodysplastic syndrome in a child: a case report.
Hu Xiangrong et al., Frontiers in pediatrics (1 January 2026)
https://pubmed.ncbi.nlm.nih.gov/42038245/
- 4.
Pancytopenia due to Transcobalamin II Deficiency (TCN2D).
Kumari Vimlesh et al., Indian journal of pediatrics (1 June 2025)
https://pubmed.ncbi.nlm.nih.gov/40148655/
- 5.
Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report.
Jamil Syed Furrukh et al., Journal of family medicine and primary care (1 May 2025)
https://pubmed.ncbi.nlm.nih.gov/40547723/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Transcobalamin II Deficiency
Transcobalamin II deficiency is a rare inherited condition in which the body cannot transport vitamin B12 from the blood into cells. Babies usually become unwell in the first months of life with poor feeding, failure to thrive, anaemia, low immunity and developmental delay. It is treated with lifelong high-dose vitamin B12 injections, and early treatment gives the best outcome for growth and development.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Transcobalamin II Deficiency is very rare and little research has been published, so this page includes research from every year, including case reports about individual patients. Case reports are marked, and describe one person's experience rather than tested results.
Most Recent Research
No abstract available
Common Questions
What is Transcobalamin II Deficiency?
Transcobalamin II deficiency is a rare inherited condition in which the body cannot transport vitamin B12 from the blood into cells. Babies usually become unwell in the first months of life with poor feeding, failure to thrive, anaemia, low immunity and developmental delay. It is treated with lifelong high-dose vitamin B12 injections, and early treatment gives the best outcome for growth and development.
How many clinical trials are available for Transcobalamin II Deficiency?
No clinical trials are currently indexed for Transcobalamin II Deficiency. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Transcobalamin II Deficiency come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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