Q:

A 7-month-old boy presented with recurrent attacks of hypoglycemic seizures especially during an acute illness

Anwaar
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2022-09-11
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A 7-month-old boy presented with recurrent attacks of hypoglycemic seizures especially during an acute illness, On examination, there are thin extremities, protuberant abdomen, and hepatomegaly. All the following are biochemical hallmarks of this disease EXCEPT

  1. lactic acidosis
  2. hypoglycemia
  3. hyperuricemia
  4. hyperlipidemia
  5. markedly elevated transaminase levels
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Anwaar
2022-09-11
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(E). In type l GSD (von Gierke disease), despite marked hepatomegaly, the liver transaminase levels are usually normal or only slightly elevated

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