methylcobalamin deficiency type G

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methylcobalamin deficiency type G

An autosomal recessive condition (OMIM:250940) characterised by mental retardation, macrocytic anaemia, homocystinuria and mild hyperhomocysteinaemia, as well as a slightly increased risk of cardiovascular disease and neural tube defects.

Molecular pathology
Defects in MTR, which encodes an enzyme that transfers a methyl group from methyl-cobalamin to homocysteine, cause methylcobalamin deficiency type G.
References in periodicals archive ?
Definition of two complementation groups, cblE and cblG. J Clin Investig 1988;81: 1690-4.
Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.
Heterogeneity in cblG: differential retention of cobalamin on methionine synthase.
Moreover, we found a patient with a probable defect of cobalamin metabolism (CblE or CblG), with isolated homocystinuria associated with megaloblastic anemia.