Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Homocystinuria-megaloblastic anemia cblG

Homocystinuria-megaloblastic anemia cblG is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MTR gene.

Systematic

Disorders of cobalamin metabolism
Classical homocysteinuria
Homocystinuria-megaloblastic anemia cblE
Homocystinuria-megaloblastic anemia cblG
MTR
Methylmalonic aciduria and homocystinuria cblC
Methylmalonic aciduria and homocystinuria cblD
Methylmalonic aciduria and homocystinuria cblF
Methylmalonic aciduria and homocystinuria cblJ
Methylmalonic aciduria cblA
Methylmalonic aciduria cblB
Methylmalonic aciduria type mut

References:

1.

Watkins D et al. (1988) Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

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2.

Leclerc D et al. (1996) Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.

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3.

Gulati S et al. (1996) Defects in human methionine synthase in cblG patients.

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4.

Kvittingen EA et al. (1997) Methionine synthase deficiency without megaloblastic anaemia.

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5.

Wilson A et al. (1998) Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.

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6.

Watkins D et al. (2002) Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

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7.

Rosenblatt DS et al. (1990) Inherited disorders of vitamin B12 utilization.

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8.

Hall CA et al. (1989) The nature of the defect in cobalamin G mutation.

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9.

Watkins D et al. (1989) Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.

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10.

Carmel R et al. (1988) Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.

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11.

Rosenblatt DS et al. (1987) Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.

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12.

Arakawa T et al. (1967) Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency.

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13.

Labrune P et al. (1999) Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency.

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14.

Outteryck O et al. (2012) Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy.

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15.

OMIM.ORG article

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Update: April 29, 2019