transcobalamin II deficiency

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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References in periodicals archive ?
These causes include (a) nutritional vitamin B12 deficiency, (b) acquired and inherited intrinsic factor deficiency, (c) selective intestinal malabsorption of vitamin B12,(d) transcobalamin II deficiency, (e)mutations in genes responsible for defects in intracellular methylcobalamin synthesis [MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase), MTR (5-methyltetrahydrofolate-homocysteine methyltransferase); also referred to as complementation groups cblE and cblG, respectively], and (f) N(5,10)-meth ylenetetrahydrofolate reductase deficiency.
Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings.
Hereditary partial transcobalamin II deficiency with neurologic, mental, and hematologic abnormalities in children and adults.