Glycogen storage disease type I (GSD I) or von Gierke's disease, is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphatase. This deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis. Since these are the two principal metabolic mechanisms by which the liver supplies glucose to the rest of the body during periods of fasting, it causes severe hypoglycemia. Reduced glycogen breakdown results in increased glycogen storage in liver and kidneys, causing enlargement of both. Both organs function normally in childhood but are susceptible to a variety of problems in the adult years. Other metabolic derangements include lactic acidosis and hyperlipidemia. Frequent or continuous feedings of cornstarch or other carbohydrates are the principal treatment. Other therapeutic measures may be needed for associated problems.
The disease is named after Edgar von Gierke, the German doctor who discovered it.
Read more about Glycogen Storage Disease Type I: Molecular Biology, Genetic Prevalence, Principal Clinical Problems, Presentation and Diagnosis, Treatment, Natural History, Prognosis, Long Term Complications
Famous quotes containing the words storage, disease and/or type:
“Many of our houses, both public and private, with their almost innumerable apartments, their huge halls and their cellars for the storage of wines and other munitions of peace, appear to me extravagantly large for their inhabitants. They are so vast and magnificent that the latter seem to be only vermin which infest them.”
—Henry David Thoreau (1817–1862)
“The artistic temperament is a disease that affects amateurs.... Artists of a large and wholesome vitality get rid of their art easily, as they breathe easily or perspire easily. But in artists of less force, the thing becomes a pressure, and produces a definite pain, which is called the artistic temperament.”
—Gilbert Keith Chesterton (1874–1936)
“We need a type of theatre which not only releases the feelings, insights and impulses possible within the particular historical field of human relations in which the action takes place, but employs and encourages those thoughts and feelings which help transform the field itself.”
—Bertolt Brecht (1898–1956)