Von Gierke’s is a glycogen storage disease that results from glucose 6-phosphata
ID: 3164633 • Letter: V
Question
Von Gierke’s is a glycogen storage disease that results from glucose 6-phosphatase deficiency. Why is this considered a glycogen storage disease though glucose 6-phosphatase is not involved in glycogen synthesis or catabolism? The patients present with hypoglycemia, lactic acidosis, hepatomegaly (enlarged liver), and increased uric acid production, uric acid being a product of nucleotide degradation. Explain the molecular basis of these symptoms given what you know of the function of glucose 6-phosphatase and its localization.
Explanation / Answer
ANS.
Von Gierke’s is a glycogen storage disease, it occurs when the body lacks the enzyme which helps to breaks down the glucose from glycogen. But in this disease glucose is not produced and leads to formation of abnormal amount of glycogen which stores in certain tissues of body and when the glycogen does not break properly it leads to the low blood sugar (hypoglycemia). Von Gierke’s is also called as Type I glycogen storage disease (GSD).
GSD (glycogen storage disease) is an autosomal recessive disorder. In this type of disorder both glycogenolysis and gluconeogenesis process are affected. Glucose 6-Phosphatase, plays an important role to provide glucose to body in hunger and it gets accumulated in the liver and kidneys, G-6 Phosphatase is associated in endoplasmic reticulum (ER) and function as a multicomponent system. Due to absence of glucose 6-phosphate catalytic activity in ER produces the type Ia (GSD-Ia). This type of abnormality along with hypoglycemia, other symptoms are seen such as lactic acidosis , hyperlipidemia , and hyperuricemia.
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