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* gennetics 6
  kashmala - 11/06/06 23:14
  A 2-year-old child demonstrates failure to thrive.
Hepatomegaly and ecchymoses of the skin are found on
physical examination. The child exhibits convulsions, and
the blood glucose is found to be only 31 mg/dL. Liver
biopsy shows cells filled with clear vacuoles that stain positively for glycogen. Which of the following conditions
best explains these findings?
A McArdle syndrome
B von Gierke disease
C Tay-Sachs disease
D Hurler syndrome
E Pompe disease
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* Re:gennetics 6
  cd45 - 11/06/06 23:26
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* Re:gennetics 6
  neoplasia - 11/06/06 23:29
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* Re:gennetics 6
  leschnyhan - 11/06/06 23:31
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* Re:gennetics 6
  step1_ca - 11/06/06 23:36
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* Re:gennetics 6
  shawn3387 - 11/06/06 23:37
  yes BB  
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* Re:gennetics 6
  kashmala - 11/07/06 00:01
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
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