transcobalamin II deficiency

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transcobalamin II deficiency

An 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.

Management
Cobalamin.

Prognosis
Poor if untreated, which may lead to mental retardation and neurologic defects.
 
Molecular pathology
Caused by defects of TCN2, which encodes transcobalamin 2, a vitamin B12-binding protein.
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