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What is Phenylketonuria: An Inborn Error of Phenylalanine Metabolism about?
This document discusses phenylketonuria (PKU), an inborn error of phenylalanine metabolism caused by deficiency of the enzyme phenylalanine hydroxylase. It was first described in 1934 and involves the accumulation of phenylalanine and its toxic by-products if left untreated. Early dietary treatment prevents intellectual impairment. The biochemistry, genetics, and molecular basis of PKU are discussed.
- Author
- Andreea Stefan
- Language
- EN