transcobalamin II deficiency

info · Genetic

A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.

Signs and symptoms

Hepatomegaly
Erythroid hypoplasia
Failure to thrive
Irritability
Megaloblastic bone marrow
Methylmalonic aciduria
Macrocytic anemia
Vomiting
Pancytopenia
Lethargy

Also known as: TCN2 deficiency