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Pyruvate dehydrogenase (PDH) deficiency
• the clinical name of the defect (if known);
• the biochemical reaction and/or metabolic pathway which is affected (how does the affected reaction fit into the overall pathway?) (with a biochemical focus)
• how is the problem diagnosed? (eg. is there a diagnostic metabolite in the blood?);
• the symptoms for the patient, and a rationalization of those symptoms in terms of the underlyingbiochemical changes brought about by the disorder (with emphasis on the underlying biochemistry)
• a description of what happens if the problem is not treated (with emphasis on the underlying biochemistry)
• a description of how the problem is treated (if it is indeed treatable) (again, with emphasis on the underlying biochemistry)****USE DIAGRAMS****
for reference:at least four independent published sources (textbooks, journal reviews etc.), but you should include no more than one source from the web. and include the pg no.
*don’t spend too much time on its genetic or physiological aspects.
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