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

Pongpak PongphitchaNongnuch SirachainanArthaporn KhongkraparnThipwimol Tim-AroonDuantida SongdejDuangrurdee Wattanasirichaigoon

Published in: BMC pediatrics (2022)

Transcobalamin deficiency should be investigated in infants with unexplained pancytopenia and acute hemolytic crisis with or without typical evidence of vitamin B12 deficiency.

Keyphrases

public health
replacement therapy
liver failure
mass spectrometry
atomic force microscopy
high resolution
aortic dissection
extracorporeal membrane oxygenation
mechanical ventilation