Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Methylmalonazidurie cblA

Methylmalonazidurie cblA ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MMAA-Gen hervorgerufen wird.

Gliederung

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

Referenzen:

1.

Dobson CM et al. (2002) Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

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2.

Mahoney MJ et al. (1975) Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.

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3.

Gravel RA et al. (1975) Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

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4.

Wilcken B et al. (1977) Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.

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5.

Ampola MG et al. (1975) Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.

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6.

Rosenberg LE et al. (1969) Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts.

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7.

Rosenberg LE et al. (1968) Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.

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8.

Rosenberg LE et al. (1968) Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.

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9.

Matsui SM et al. (1983) The natural history of the inherited methylmalonic acidemias.

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10.

OMIM.ORG article

Omim 251100 [^]
Update: 10. Mai 2019