Molekulargenetische Diagnostik

Praxis Dr. Mato Nagel

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Methylmalonazidurie cblB

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

Gliederung

Störungen des Cobalaminstoffwechsels
	Homozysteinurie und megaloblastäre Anämie cblE
	Homozysteinurie und megaloblastäre Anämie cblG
	Methylmalonazidurie Typ mut
	Methylmalonazidurie cblA
	Methylmalonazidurie cblB
		MMAB
	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 cblB complementation group of vitamin B12-dependent methylmalonic aciduria. [^]

2.	Jorge-Finnigan A et. al. (2010) Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. [^]

3.	Brasil S et. al. (2015) Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. [^]

4.	Fenton WA et. al. (1981) The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts. [^]