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Diseases of carbohydrate metabolism
Stable Identifier
R-HSA-5663084
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
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The processes by which dietary carbohydrate is digested to monosaccharides and these are taken up from the gut lumen into cells where they are oxidized to yield energy or consumed in biosynthetic processes are a central part of human metabolism and defects in them can lead to serious disease. Defects annotated here affect saccharide digestion in the gut lumen, fructose metabolism, and the pentose phosphate pathway. In addition, the defect in glucuronate catabolism that leads to essential pentosuria, a benign phenotype that is one of Garrod's original four inborn errors of metabolism, is annotated.
Participants
Events
Mucopolysaccharidoses
(Homo sapiens)
Glycogen storage diseases
(Homo sapiens)
Hereditary fructose intolerance
(Homo sapiens)
Essential fructosuria
(Homo sapiens)
Essential pentosuria
(Homo sapiens)
Pentose phosphate pathway disease
(Homo sapiens)
Intestinal saccharidase deficiencies
(Homo sapiens)
Participates
as an event of
Diseases of metabolism (Homo sapiens)
Disease
Name
Identifier
Synonyms
carbohydrate metabolic disorder
DOID:2978
disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Created
D'Eustachio, P (2015-01-15)
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