Metabolic Acidosis - DOAJ

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

Presentation of a patient We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenomegaly, recurrent infection, metabolic acidosis, and an acute hemolytic crisis. A novel homozygous TCN2 mutation, c. 428-2A > G, and mRNA analysis revealed an aberrant transcription of exon 4 skipping, which confirmed an aberrant transcription of exon 4 skipping. Following hydroxocobalamin therapy, the patient showed significant clinical improvement. Conclusions Transcobalamin deficiency should be investigated in infants with unexplained pancytopenia and acute hemolytic crisis, with or without clear signs of vitamin B12 deficiency.

Source link: https://doi.org/10.1186/s12887-022-03291-5

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