11-06-2006, 07:37 PM
yes BB
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gennetics 6 - kashmala
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11-06-2006, 08:01 PM
B
This patient has von Gierke disease. Because of the deficiency of glucose-6-phosphatase, glycogen is not metabolized readily to glucose; and the patients have se- vere hypoglycemia, leading to convulsions. Intracyto- plasmic accumulations of glycogen occur mainly in liver and kidney. Another form of glycogen storage disease, McArdle syndrome, results from a deficiency of muscle phosphorylase and leads to muscle cramping. Tay-Sachs disease is characterized by a deficiency in hexosaminidase A and results in severe neurologic deterioration. In Hurler syndrome, the enzyme a-L-iduronidase is deficient. Af- fected children have skeletal deformities and buildup of mucopolysaccharides in endocardium and coronary arteries, leading to heart failure. Cardiomegaly and heart failure mark Pompe disease, another form of glycogen storage disease.
11-06-2006, 08:01 PM
B
This patient has von Gierke disease. Because of the deficiency of glucose-6-phosphatase, glycogen is not metabolized readily to glucose; and the patients have se- vere hypoglycemia, leading to convulsions. Intracyto- plasmic accumulations of glycogen occur mainly in liver and kidney. Another form of glycogen storage disease, McArdle syndrome, results from a deficiency of muscle phosphorylase and leads to muscle cramping. Tay-Sachs disease is characterized by a deficiency in hexosaminidase A and results in severe neurologic deterioration. In Hurler syndrome, the enzyme a-L-iduronidase is deficient. Af- fected children have skeletal deformities and buildup of mucopolysaccharides in endocardium and coronary arteries, leading to heart failure. Cardiomegaly and heart failure mark Pompe disease, another form of glycogen storage disease. |
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