Open AccessDifferent Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey
Author(s) -
Selma Ünal,
Feryal Karahan,
Tuğba Arıkoğlu,
Asuman Akar,
Semanur Kuyucu
Publication year - 2019
Publication title -
turkish journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.351
H-Index - 16
ISSN - 1300-7777
DOI - 10.4274/tjh.galenos.2018.2018.0230
Subject(s) - medicine , hypogammaglobulinemia , pancytopenia , cobalamin , megaloblastic anemia , cytopenia , methylmalonic acid , pediatrics , neutropenia , hemophagocytic lymphohistiocytosis , anemia , vitamin b12 , gastroenterology , differential diagnosis , immunology , bone marrow , disease , pathology , antibody , toxicity
Transcobalamin II deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid. The presenting clinical features are failure to thrive, diarrhea, megaloblastic anemia, pancytopenia, neurologic abnormalities, and also recurrent infections due to immune abnormalities in early infancy.