A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

BACKGROUND: Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation. CASE PRESENTATION: We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenome...

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Detalles Bibliográficos
Autores principales: Pongphitcha, Pongpak, Sirachainan, Nongnuch, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Songdej, Duantida, Wattanasirichaigoon, Duangrurdee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9052601/
https://www.ncbi.nlm.nih.gov/pubmed/35488219
http://dx.doi.org/10.1186/s12887-022-03291-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9052601/
https://www.ncbi.nlm.nih.gov/pubmed/35488219
http://dx.doi.org/10.1186/s12887-022-03291-5

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