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

• मुख्य लेखकों: Pongpak Pongphitcha (लेखक), Nongnuch Sirachainan (लेखक), Arthaporn Khongkraparn (लेखक), Thipwimol Tim-Aroon (लेखक), Duantida Songdej (लेखक), Duangrurdee Wattanasirichaigoon (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2022-04-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...