Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Methylmalonazidurie mit Homozysteinurie cblD

Methylmalonazidurie mit Homozysteinurie cblD ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MMADHC-Gen hervorgerufen wird.

Gliederung

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

Referenzen:

1.

Cooper BA et. al. (1990) Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.

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2.

Goodman SI et. al. (1970) Homocystinuria with methylmalonic aciduria: two cases in a sibship.

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3.

Suormala T et. al. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

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4.

Coelho D et. al. (2008) Gene identification for the cblD defect of vitamin B12 metabolism.

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5.

Stucki M et. al. (2012) Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

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6.

Willard HF et. al. (1978) Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

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7.

Mellman I et. al. (1978) Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.

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8.

Fenton WA et. al. (1978) Genetic and biochemical analysis of human cobalamin mutants in cell culture.

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9.

Carmel R et. al. (1980) Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.

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10.

Watkins D et. al. (2000) Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).

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