Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Homozysteinurie und megaloblastäre Anämie cblG

Homozysteinurie und megaloblastäre Anämie cblG ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MTR-Gen hervorgerufen wird.

Gliederung

Störungen des Cobalaminstoffwechsels
Homozysteinurie und megaloblastäre Anämie cblE
Homozysteinurie und megaloblastäre Anämie cblG
MTR
Methylmalonazidurie Typ mut
Methylmalonazidurie cblA
Methylmalonazidurie cblB
Methylmalonazidurie mit Homozysteinurie cblC
Methylmalonazidurie mit Homozysteinurie cblD
Methylmalonazidurie mit Homozysteinurie cblF
Methylmalonazidurie mit Homozysteinurie cblJ

Referenzen:

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.

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

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3.

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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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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