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Glycogen storage disease
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Glycogen storage diseases, also called glycogenoses, are inborn errors of metabolism: problems you are born with in the way your body handles carbohydrates. The result is that glycogen gets stored abnormally.
Glycogen is the body's sugar reserve: a branched polymer, meaning many glucose molecules hooked together in a treelike shape. When energy is needed, the body breaks it apart and releases glucose. In these diseases one of the enzymes or transporters that do that job fails, and that is where the trouble starts.
The harm can come in two ways: not being able to turn glycogen into energy, or building it up until it becomes toxic. That is why weakness during exercise and hypoglycemia, which is low blood sugar, show up. The pantry is full, but the key to open it is missing.
In brief
Glycogen storage diseases, or glycogenoses, are inborn errors of carbohydrate metabolism with abnormal storage of glycogen.
Glycogen is a branched polymer of glucose that the body breaks down when it needs energy; defects in the enzymes and transporters involved in that process cause the disease.
The harm comes from being unable to turn glycogen into energy or from building it up until it becomes toxic, with hypoglycemia and weakness during exercise.
The pantry is full, but the key to open it is missing.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingGlycogen Storage Disease, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
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