Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Methylmalonazidurie mit Homozysteinurie cblF

Methylmalonazidurie mit Homozysteinurie cblF ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im LMBRD1-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
Methylmalonazidurie mit Homozysteinurie cblF
LMBRD1
Methylmalonazidurie mit Homozysteinurie cblJ

Referenzen:

1.

Rutsch F et. al. (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

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2.

Vassiliadis A et. al. (1991) Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography.

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3.

Shih VE et. al. (1989) Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.

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4.

Rosenblatt DS et. al. (1986) New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria.

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5.

Watkins D et. al. (1986) Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

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6.

Rosenblatt DS et. al. (1985) Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

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7.

Alfadhel M et. al. (2011) Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review.

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