Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Homozysteinurie und megaloblastäre Anämie cblE

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

Gliederung

Störungen des Cobalaminstoffwechsels
Homozysteinurie und megaloblastäre Anämie cblE
MTRR
Homozysteinurie und megaloblastäre Anämie cblG
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.

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.

Rosenblatt DS et. al. (1985) Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).

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4.

Schuh S et. al. (1984) Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.

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5.

Leclerc D et. al. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

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6.

Zavadakova P et. al. (2002) CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.

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7.

Zavadáková P et. al. (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

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8.

Rosenblatt DS et. al. (1984) Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.

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9.

Fowler B et. al. (1997) Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

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