Click on these links for the particular clinical cases.

• Diabetes
• Glycogen Storage Defects
• Lactose Intolerance
• Galactosemia

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Here we have collected some clinical cases and related background material on various defects in the metabolism of carbohydrates (including simple sugars like glucose or galactose, and more complicated polymers like glycogen).

One of the most common diseases is diabetes. Diabetes is complicated and has many facets, and we use some clinical cases to explore these different presentations of the disease.

Glycogen storage diseases are "classical" genetic diseases, in that typically there is a mutation in a single gene that can be identified as causing the disease. Depending on which function the protein product (enzyme) of the gene performs, we can see rather different symptoms; we look at three different types of glycogen storage diseases to explore this.

Finally, we look at a relatively common (but fortunately usually not severe) genetic disease involving the inability to digest the disaccharide lactose, and at a rarer (and more serious) disease involving the metabolism of fructose.