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Results 1 - 7 of 7 for Cobalamin
  1. Imerslund-Gräsbeck syndrome 
    ... low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a ... condition. Defect of enterocyte intrinsic factor receptor Enterocyte cobalamin malabsorption Imerslund-Grasbeck syndrome Juvenile pernicious anemia with ...
    https://medlineplus.gov/.../condition/imerslund-grasbeck-syndrome - Genetics
  2. Transcobalamin deficiency 
    ... is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body. Cobalamin is obtained from the diet; this vitamin is ...
    https://medlineplus.gov/genetics/condition/transcobalamin-deficiency - Genetics
  3. Methylmalonic acidemia with homocystinuria 
    ... and best understood form, called cblC type (or cobalamin C disease), occurs in about 80 percent of ... involved in processing vitamin B12, also known as cobalamin or Cbl. The PRDX1 gene is not directly ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  4. Glutamate formiminotransferase deficiency 
    ... PubMed Whitehead VM. Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol. 2006 ...
    https://medlineplus.gov/...glutamate-formiminotransferase-deficiency - Genetics
  5. Holocarboxylase synthetase deficiency 
    ... Citation on PubMed Baumgartner MR. Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. Handb Clin ...
    https://medlineplus.gov/.../holocarboxylase-synthetase-deficiency - Genetics
  6. Homocystinuria 
    ... PubMed Watkins D, Rosenblatt DS. Inherited defects of cobalamin metabolism. Vitam Horm. 2022;119:355-376. doi: ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  7. Methylmalonic acidemia 
    ... This enzyme works with vitamin B12 (also called cobalamin) to break down several protein building blocks (amino ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics