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26 cze 2023 · GSD is a group of rare inherited conditions that affect how your body uses or stores glycogen, a form of glucose. Learn about the symptoms, causes, diagnosis and treatment of different types of GSD and how to manage them.
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. [1] GSD has two classes of cause: genetic and environmental.
Glycogen storage disease (GSD) is a rare genetic disorder that affects how the body uses and stores glycogen, a form of sugar. Symptoms vary by type and may include low blood sugar, enlarged liver, weak muscles, and more. Learn about the causes, diagnosis, and treatment of GSD.
29 maj 2023 · Glycogen storage diseases (GSDs) are inherited inborn errors of carbohydrate metabolism. Clinical onset can range from neonatal life to adulthood. In general, they occur due to a lack of specific enzymes involved in the breakdown of glycogen and result in an abnormal buildup of glycogen in the liver or skeletal muscles.
Changes related to the disorder of glycogen metabolism are characterized by symptoms varying from developmental delay, especially of motor functions, to serious and immediate neuroglycopathy, which is a life-threatening condition.
Manifestations of GSD often look like other health problems and may include: poor growth. low blood glucose level (hypoglycemia) an enlarged liver (may show as a bulging abdomen) abnormal blood tests. low muscle tone. muscle pain and cramping during exercise. too much acid in the blood (acidosis) fatigue.
Typical symptoms include weakness, sweating, confusion, kidney stones, a large liver, low blood sugar, and stunted growth. The diagnosis is made by doing blood tests, by examining a piece of tissue under a microscope (biopsy), and by doing magnetic resonance imaging.
