PKU is an autosomal recessive genetic disorder that affects function of the phenylalanine hydroxylase enzyme.

苯酮尿症是一种常染色体隐病，会影响苯羟化酶功能。

The phenylalanine hydroxylase gene is located on chromosome 12 and over 600 mutations have been described.

苯羟化酶（PAH）基因位于12号染色体上，现已发现了600多种突变。

Normally, once Phe enters the body, most of it is converted to tyrosine by the enzyme phenylalanine hydroxylase.

通常，苯进入机体后，大部分会被苯羟化酶转化成酪。

Kuvan is a cofactor for phenylalanine hydroxylase which helps improve the PKU patient's innate PAH enzyme activity and increase their Phe tolerance.

盐沙蝶呤（Kuvan）是苯羟化酶的辅助因子，可以帮助提高PKU患者自身苯羟化酶活，增强其对苯的耐受。

Medications like phenytoin, an anticonvulsant, uses liver and kidney hydroxylase enzymes for its own metabolism, so especially with long term use, there’s not enough vitamin D being generated.

苯妥英，一种抗惊厥药物，会占用肝肾的羟化酶用于药物代谢，所以对于尤其是长期用该药的患者，其维生素D生成可能不足。

Palynziq is an enzyme, injected under the skin every day by the patient that circulates in the blood, metabolizing Phe, and substitutes for the defective phenylalanine hydroxylase enzyme.

Palynziq是一种酶，由患者每日皮下注射后，可在血液中循环，代谢苯，从而替代有缺陷的苯羟化酶。