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The inability to degrade phenylalanine (Phe) can arise from various enzyme deficiencies. The most common enzyme disorder involves phenylalanine hydroxylase (PAH). PAH converts Phe to tyrosine (Tyr) and is the first enzyme in the Phe degradative pathway. Other defective enzymes may include dihydrobiopterin synthetase and dihydrobiopterin reductase. These are involved in the metabolism of biopterin, an essential cofactor for PAH.
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