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Features include: Paresthesia, Abnormality of metabolism/homeostasis, and Reduced tendon reflexes.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Paresthesia |
Metabolism |
Biomarker and diagnostic research for transcobalamin I deficiency has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for transcobalamin I deficiency.
27 publications have been identified in PubMed for transcobalamin I deficiency. Research spans Case Report / Case Series (22%), Epidemiology / Natural History (22%), and Diagnostic / Biomarker (19%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 22% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Abnormality of metabolism/homeostasis |
Muscles | 1 | Reduced tendon reflexes |
6 |
22% |
Testing and diagnosis research | 5 | 19% |
Laboratory research | 4 | 15% |
Research summaries | 3 | 11% |
Clinical study results | 3 | 11% |
Fernández-Téllez B (2026). [PMID: 42095812](https://pubmed.ncbi.nlm.nih.gov/42095812/). *Rev Med Inst Mex Seguro Soc*. [Review / Meta-Analysis]
Virevialle AL (2026). [PMID: 41265001](https://pubmed.ncbi.nlm.nih.gov/41265001/). *J Psychiatr Res*. [Epidemiology / Natural History]
Hurkmans EGE (2026). [PMID: 41498143](https://pubmed.ncbi.nlm.nih.gov/41498143/). *Int J Lab Hematol*. [Case Report / Case Series]
Vilaça JLC (2026). [PMID: 41710624](https://pubmed.ncbi.nlm.nih.gov/41710624/). *Saudi J Anaesth*. [Case Report / Case Series]
Sankar S (2026). [PMID: 40551363](https://pubmed.ncbi.nlm.nih.gov/40551363/). *Ann Clin Biochem*. [Clinical Trial Publication]
Rohilla R (2025). [PMID: 39316865](https://pubmed.ncbi.nlm.nih.gov/39316865/). *Biosens Bioelectron*. [Basic Science / Preclinical]
Møller R (2025). [PMID: 40334785](https://pubmed.ncbi.nlm.nih.gov/40334785/). *J Nutr*. [Diagnostic / Biomarker]
Saeed MM (2025). [PMID: 39933849](https://pubmed.ncbi.nlm.nih.gov/39933849/). *BMJ Case Rep*. [Case Report / Case Series]
Bahtiyar N (2025). [PMID: 41175296](https://pubmed.ncbi.nlm.nih.gov/41175296/). *Ir J Med Sci*. [Basic Science / Preclinical]
Zulfiqar AA (2025). [PMID: 40786542](https://pubmed.ncbi.nlm.nih.gov/40786542/). *Eur J Case Rep Intern Med*. [Diagnostic / Biomarker]