transcobalamin II deficiency(redirected from TCN2 deficiency)
transcobalamin II deficiencyAn autosomal recessive disorder (OMIM:275350) with onset in early infancy, which is characterised by failure to thrive, megaloblastic anaemia and pancytopaenia, variably accompanied by methylmalonic aciduria, recurrent infections, vomiting and diarrhoea.
Poor if untreated, which may lead to mental retardation and neurologic defects.
Caused by defects of TCN2, which encodes transcobalamin 2, a vitamin B12-binding protein.
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