Article detail · 2017
Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014
- Year
- 2017
- Type
- article
Data source split
- YÖKSİS YÖKSİS article record
- YÖKSİS venue Journal of Pediatric Hematology/Oncology
- Catalog match (ISSN) Journal of Pediatric Hematology/Oncology
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
OpenAlex · English
Transcobalamin deficiency (OMIM 275350) is a rare autosomal recessive disease presenting with nonspecific clinical features in early infancy. We report the clinical and laboratory manifestations of 7 children diagnosed with transcobalamin deficiency. All patients were admitted between 2 and 4 months of age with anemia, thrombocytopenia, and hyperhomocysteinemia. The most common complaints at admission were pallor, weakness, and poor feeding. Genetic analysis was performed in 5 patients and it revealed the same homozygous mutation. We initially treated all patients with intramuscular injections of a maximum of 1 mg cyanocobalamin (CN-Cbl) daily and with a final dose of 1 mg per week. Hemoglobin and platelet counts significantly decreased upon decrease or cessation of CN-Cbl therapy. The patients were reevaluated between 2 and 4 years of age and all had delay in speech and walking. In conclusion, 1 mg of intramuscular CN-Cbl every week suffices for hematological improvement but not for normal neurological development in patients who all had relapse due to decrease or cessation of treatment.
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Citations
OpenAlex cited_by_count. Not a WoS or Scopus citation count; those sources have no separate column here.
23 citations
OpenAlex cited_by_count (cache / database)
8 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).
- Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey 2019
- Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey 2019
- Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature 2020
- Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature 2020
- Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches 2020
- Transcobalamin II Deficiency in an Infant with a Novel Mutation 2022
- Different presentations of patients with transcobalamin II deficiency: A single center experience from Turkey 2018
- Different presentations of patients with transcobalamin II deficiency: A single center experience from Turkey 2018