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Transcobalamin (TC) deficiency is a rare autosomal recessive inborn error of cobalamin transport which clinically manifests in early infancy. We describe a child with TC deficiency who presented with classical clinical and lab stigmata of inborn error of vitamin B 12 metabolism except normal serum B 12 levels. He was started on empirical parenteral cobalamin supplements at 2 months of age; however, the definitive diagnosis could only be established at 6 years of age when a genetic evaluation revealed homozygous nonsense variation in exon 8 of the TCN2 gene (chr22:g.31019043C&gt;T).

Transcobalamin deficiency: vitamin B12 deficiency with normal serum B12 levels

Transcobalamin deficiency: vitamin B₁₂ deficiency with normal serum B₁₂ levels