question archive Phenylketonuria is a well—known disorder that is described as an 'inborn error of metabolism'
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Phenylketonuria is a well—known disorder that is described as an 'inborn error of metabolism'. It is an inherited metabolic disorder caused by failure to synthesise a specific enzyme, or production of a defective form of an enzyme, causing a significant blockage in a key metabolic reaction sequence. Symptoms are caused by accumulation of substrate/s behind the blockage and to the absence of normal product. a. Tabulate major clinical findings associated with the disease and provide a brief explanation for each.