Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni. Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija
Children with glycogen storage diseases (GSD) are treated in the Clinical Department of Endocrinology, Diabetes and Metabolic Diseases at the Children’s Hospital in Ljubljana. GSD is a rare inherited metabolic disease. The disease is the consequence of abnormal storage and release of glycogen from the liver because of enzyme deficiencies. There are several types of GSDs. The disease is generally diagnosed because of hepatomegaly and hypoglycaemia, which can present with convulsions and can be life-threatening. GSD requires of medical personnel extensive knowledge and experience in observing the clinical symptoms that are typical of the disease. It is necessary to educate and encourage parents to cooperate in disease management, since only in this way is it possible for the child to develop as normally as possible and prevent complications. A boy with GDS type Ia is presented.
Key words: glycogen storage disease, hypoglycaemia, cornflour, child, parents.