Von Gierke Disease
6 year old boy with frequent episodes of weakness.
Weakness accompanied by sweating, feeling of dizziness; weakness had been noticed since about age 4, but had become more noticeable when child entered school and was challenged by other children during recess. Enlarged abdomen, due to grossly enlarged liver. Kidneys also enlarged. Poor musculature. Normal heart.
Weakness accompanied by sweating, feeling of dizziness; weakness had been noticed since about age 4, but had become more noticeable when child entered school and was challenged by other children during recess. Enlarged abdomen, due to grossly enlarged liver. Kidneys also enlarged. Poor musculature. Normal heart.
Von Gierke disease is a condition in which the body cannot break down glycogen for energy. Glycogen is stored in the liver and muscles and is normally broken down into glucose when you do not eat. Von Gierke disease is also called Type I glycogen storage disease (GSD I) or glucose-6-phosphatase deficiency. Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature.
GSDI is associated with abnormalities in the G6PC gene (GSDIA) or SLC37A4 gene (GSDIB) that result in enzyme deficiencies that cause excess amounts of glycogen accumulation in the body tissues and low levels of glucose in the blood. This enzyme deficiency also results in derangement of other important metabolites in the body thus causing imbalance or excessive accumulation of these metabolites. |
Signs & Symptoms |
Treatment |
Symptoms of GSDI usually begin at three to four months of age
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