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Results 1 - 4 of 4 for Cobalamin C disease
  1. Methylmalonic acidemia with homocystinuria 
    ... and best understood form, called cblC type (or cobalamin C disease), occurs in about 80 percent of affected individuals. ... mutase and methionine synthase activities Genetic Testing Registry: Cobalamin C disease Genetic Testing Registry: Methylmalonic aciduria and homocystinuria type ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  2. PRDX1 gene 
    ... Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Gueant JL, Morrone A. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations. ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
  3. LMBRD1 gene 
    ... NESI nuclear export signal-interacting protein probable lysosomal cobalamin transporter Tests of LMBRD1 PubMed LMBR1 DOMAIN-CONTAINING ... 3109/09687688.2014.990998. Citation on PubMed Huang C, Jiang JY, Chang SC, Tsay YG, Chen MR, ...
    https://medlineplus.gov/genetics/gene/lmbrd1 - Genetics
  4. Methylmalonic acidemia 
    ... This enzyme works with vitamin B12 (also called cobalamin) to break down several protein building blocks (amino ... EPIMERASE DEFICIENCY PubMed Almasi T, Guey LT, Lukacs C, Csetneki K, Voko Z, Zelei T. Systematic literature ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics