酪氨酸病

Tyrosinosis type 1 is an inherited disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to high levels of phenylalanine in the blood.
酪氨酸症是一种遗传性疾病，由于缺乏苯丙氨酸羟化酶，导致血液中苯丙氨酸水平过高。
The patient was diagnosed with tyrosinosis due to excessive melanin production in the skin and nervous system.
患者被诊断为酪氨酸症，因为皮肤和神经系统产生了过多的黑色素。
Tyrosinosis can present at birth or later in life, with symptoms ranging from mild to severe.
酪氨酸症可以出生时就有，也可以在生命后期出现，症状从轻微到严重不等。
The treatment for tyrosinosis involves managing high blood phenylalanine levels and, in some cases, dietary restrictions.
治疗酪氨酸症包括控制血液中的苯丙氨酸水平，并在某些情况下限制饮食。
A genetic test can help identify individuals at risk for tyrosinosis type 1."
基因检测可以帮助识别出患有1型酪氨酸症风险的人。
Tyrosine is a precursor amino acid that leads to the production of melanin and other pigments.
酪氨酸是制造黑色素和其他色素的前体氨基酸。
In tyrosinosis, the excess melanin can cause skin discoloration and neurological problems.
在酪氨酸症中，过多的黑色素可能导致皮肤色素沉着和神经问题。
Research is ongoing to develop effective therapies to prevent or cure this rare disorder.
正在进行的研究旨在开发有效的方法来预防或治疗这种罕见的疾病。
Tyrosinosis type 2, also known as oculocutaneous albinism, affects vision and skin.
酪氨酸症，也称为眼-皮肤白化病，影响视力和皮肤。
Public awareness campaigns have been launched to educate about the symptoms and prevention measures for tyrosinosis.
公众意识运动已经启动，以教育人们了解酪氨酸症的症状和预防措施。