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

• Main Authors: Pongpak Pongphitcha (Author), Nongnuch Sirachainan (Author), Arthaporn Khongkraparn (Author), Thipwimol Tim-Aroon (Author), Duantida Songdej (Author), Duangrurdee Wattanasirichaigoon (Author)
• Format: Book
• Published: BMC, 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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, hepatos...