Glycogen storage disease

The glycogen storage diseases, also known as glycogen storage diseases (Greek word part γλυκός "sweet" for ) are a heterogeneous group of congenital enzyme defects. They count with an incidence of 1:20.000-1:25.000 to the rare metabolic diseases. Both the synthesis and degradation of glycogen (and hence glucose homeostasis ) may be affected, depending on which enzyme is involved. But also transport proteins with compensatory More education of glycogen ( see type XI). There may be an accumulation of normal or pathologically structured glycogen in liver, heart, skeletal muscles and central nervous system. Even the lack of formation of glycogen ( type 0) is allocated to the storage diseases.

While the glycogen stores of the liver to maintain a constant blood sugar level of importance, glycogen in the muscles is the local energy metabolism ( glycogenolysis ). Classification is performed in the chronological order of the first description with Roman numerals, alternatively the name of the describer will be used. Depending on which metabolic intermediate accumulates, a distinction is clinically very different clinical pictures in part.

(Liver and muscle)

• Metabolic disease