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I've had some students who were taking biochemistry in preparation for professional training. And if your goal is work in a clinical profession, much of the standard biochemistry curriculum will seem abstract and impractical. So I want to highlight a recent story in the Washington Post where a boy with a set of unusual symptoms was eventually diagnosed with a rare genetic disease in a pathway that all biochemistry students study. The boy, Peter Mathiasen, suffered recurrent, inexplicable bouts of hypo- (but also sometimes hyper-) glycemia and ketosis. After a number of years, a specialist diagnosed him with a glycogen storage disease. In particular, Peter as found to have a deficiency in the enzyme phosphorylase kinase. Normally, the liver regulates the level of glucose in the blood. When glucose is high, as is the case after a meal, the liver will absorb the glucose and store it in the form of a polymer called glycogen. When blood glucose is low, enzymes in the liver break down... read more

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