Phenylketonuria (PKU) is a genetic metabolic disorder that affects the body's ability to break down an amino acid called phenylalanine."
(苯丙酮尿症是一种遗传性代谢障碍疾病,影响人体分解名为苯丙氨酸的氨基酸的能力。)
Newborn screening for
phenylketonuria (PKU) is mandatory in many countries to prevent intellectual disability."
(在许多国家,新生儿必须筛查苯丙酮尿症以防止智力障碍的发生。)
Individuals with untreated
phenylketonuria (PKU) can develop neurological problems and cognitive impairments."
(未经治疗的苯丙酮尿症患者可能会出现神经系统问题和认知功能障碍。)
A low-phenylalanine diet is the primary treatment for individuals diagnosed with
phenylketonuria (PKU)."
(低苯丙氨酸饮食是对苯丙酮尿症(PKU)患者的首要治疗方法。)
Early detection and management of
phenylketonuria (PKU) can significantly improve a patient's quality of life."
(苯丙酮尿症(PKU)的早期发现与管理能显著提高患者的生活质量。)
Parents who have a child with
phenylketonuria (PKU) should consider genetic counseling before having more children."
(如果父母有一个患有苯丙酮尿症的孩子,在考虑生育更多孩子前应接受遗传咨询。)
Phenylketonuria (PKU) is caused by a deficiency in the enzyme phenylalanine hydroxylase."
(苯丙酮尿症是由苯丙氨酸羟化酶缺乏引起的。)
Without proper treatment, high levels of phenylalanine in the blood due to
phenylketonuria (PKU) can lead to serious health issues."
(若未经适当治疗,由于苯丙酮尿症导致血液中苯丙氨酸水平过高,可能会引发严重的健康问题。)
In cases of mild
phenylketonuria (PKU), symptoms may not be apparent until later in childhood or even into adulthood."
(在轻度苯丙酮尿症病例中,症状可能直到儿童晚期甚至成年后才会显现出来。)
Continuous monitoring and adherence to dietary restrictions are crucial for those living with
phenylketonuria (PKU)."
(对于苯丙酮尿症患者来说,持续监测并严格遵守饮食限制至关重要。)
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