Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
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.

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]