What are glycogen storage disorders?
Glycogen storage disorders are a group of inherited diseases that result from a lack of, or abnormal functioning of, one of the enzymes involved in the conversion of glucose to glycogen or the breakdown of glycogen back into glucose. Because there are a number of different enzymes involved in glycogen production and breakdown, there are a number of different glycogen storage disorders. In fact, there are over 12 types of glycogen storage disorder. Each disorder has a different enzyme lack or malfunction. If the enzyme problem is with one of the enzymes involved in glycogen synthesis (production), this causes reduced amounts of ‘normal’ glycogen to be produced and sometimes ‘abnormal’ glycogen is produced. If the enzyme problem is with one of the enzymes involved in glycogen breakdown back into glucose, this can lead to : • Low levels of glucose in your body (a condition known as hypoglycaemia). • A build-up of glycogen in your muscles and liver. Because glycogen storage disorders are i
