Defects in vitamin and cofactor metabolism

Stable Identifier
R-HSA-3296482
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defects in vitamin and cofactor metabolism
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Vitamins are essential nutrients, required in small amounts from the diet for the normal growth and development of a multicellular organism. Where there is vitamin deficiency, either by poor diet or a defect in metabolic conversion, diseases called Avitaminoses occur. Currently, cobalamin (Cbl, vitamin B12) metabolic defects are described below (Chapter 155 in The Metabolic and Molecular Bases of Inherited Disease, 8th ed, Scriver et al. 2001)
Literature References
PubMed ID Title Journal Year
  The Online Metabolic and Molecular Bases of Inherited Disease

Valle, D, Beaudet, AL, Antonarakis, SE, Ballabio, A, Kinzler, KW, Vogelstein, B

  2001
19727438 Biotin and biotinidase deficiency

Zempleni, J, Hassan, YI, Wijeratne, SS

Expert Rev Endocrinol Metab 2008
Participants
Events
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as an event of
Disease
Cross References
Mondo
Authored
Jassal, B  (2013-04-18)
Reviewed
Watkins, D  (2013-08-14)
Created
Jassal, B  (2013-04-18)
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