phenylketonuria

简明释义

英[ˌfɛnəlˌkiːtəˈnʊəriə]美[ˌfɛnəlˌkiːtəˈnʊəriə]

n. [泌尿] 苯丙酮尿；[泌尿] 苯丙酮酸尿

英英释义

单词用法

同义词

反义词

例句

1.Objective to understand the prevalence of thyroid hypofunction (CH) and phenylketonuria (PKU) among newborn in Penglai in order to find and treat them in time.

[目的]为了解蓬莱市新生儿甲状腺功能低下(CH)和苯丙酮尿症(pku)的发病情况，以便早期发现、及时治疗。

2.Tragically, their daughter Carol was born in 1920 with a genetic birth defect called phenylketonuria, which led to mental impairment.

不幸的是，1920年赛珍珠的女儿卡罗出生时患有一种叫做苯丙酮酸尿症的先天基因缺陷症，导致智力受损。

3.Objective to explore the incidence and distribution features of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in Lianyungang area.

目的探讨连云港地区新生儿先天性甲状腺功能减退症(CH)及苯丙酮尿症(PKU)发病及分布特征。

4.This result showed that PCR-SSCP analysis could be effectively used for the direct gene diagnosis of phenylketonuria.

SSCP分析法可有效地用于苯丙酮尿症的基因诊断。

5.As phenylalanine dehydrogenase is used to determine the concentration of plasma phenylalanine for monitoring of phenylketonuria and synthesize L-amino acids, it is drawing more and more attention.

苯丙氨酸脱氢酶因在临床上可用作苯丙酮尿症的检测用酶，工业上可用于合成手性氨基酸而越来越受到关注。

6.Borsi Batki suffers from phenylketonuria (PKU), a metabolic disorder that if undetected, can lead to problems with brain development, progressive mental retardation, brain damage and seizures.

她患有苯丙酮酸尿症，这是一种先天性代谢异常病，会影响大脑发育、损伤脑部神经和损害智力。

7.Tyrosine: One of the amino acids, not essential for humans unless they have the hereditary disorder phenylketonuria.

酪氨酸：一种氨基酸，对人体不是必需的，除非它们含有苯丙酮尿症。

8.The management of phenylketonuria in childhood requires a multidisciplinary approach across the hospital community interface.

儿童苯丙酮尿症的管理需要多学科的协作。

9.The doctor explained that phenylketonuria (苯丙酮尿症) is a genetic disorder that affects how the body processes phenylalanine.

医生解释说，phenylketonuria (苯丙酮尿症) 是一种影响身体如何处理苯丙氨酸的遗传疾病。

10.Children diagnosed with phenylketonuria (苯丙酮尿症) must follow a strict diet to avoid high levels of phenylalanine.

被诊断为phenylketonuria (苯丙酮尿症) 的儿童必须遵循严格的饮食，以避免苯丙氨酸水平过高。

11.Screening for phenylketonuria (苯丙酮尿症) is performed shortly after birth in many countries.

在许多国家，出生后不久就会进行phenylketonuria (苯丙酮尿症) 的筛查。

12.If left untreated, phenylketonuria (苯丙酮尿症) can lead to severe intellectual disability.

如果不加以治疗，phenylketonuria (苯丙酮尿症) 可能导致严重的智力残疾。

13.Parents of children with phenylketonuria (苯丙酮尿症) often join support groups to share experiences and advice.

患有phenylketonuria (苯丙酮尿症) 的儿童的父母通常会加入支持小组，以分享经验和建议。

作文

Phenylketonuria, often abbreviated as PKU, is a rare genetic disorder that affects how the body processes an amino acid called phenylalanine. This condition arises due to a deficiency in an enzyme known as phenylalanine hydroxylase, which is crucial for converting phenylalanine into another amino acid, tyrosine. When phenylalanine accumulates in the body, it can lead to serious health issues, particularly affecting brain development and function. Understanding phenylketonuria is essential not only for those diagnosed with the condition but also for their families and healthcare providers. The symptoms of phenylketonuria typically manifest in infancy. Newborns may appear normal at birth, but without early detection and intervention, they can develop intellectual disabilities, behavioral problems, and seizures. It is crucial for infants to undergo newborn screening tests to identify high levels of phenylalanine. If left untreated, the consequences can be severe and irreversible. Therefore, awareness of phenylketonuria and its implications is vital for ensuring timely medical care. Dietary management is the cornerstone of treatment for individuals with phenylketonuria. A strict low-phenylalanine diet is necessary to prevent the accumulation of this amino acid in the body. This means avoiding high-protein foods such as meat, fish, eggs, dairy products, nuts, and certain grains. Instead, patients are encouraged to consume special medical foods and formulas that provide essential nutrients without the harmful levels of phenylalanine. Regular monitoring of blood phenylalanine levels is also important to ensure that they remain within a safe range. Living with phenylketonuria requires a lifelong commitment to dietary restrictions, which can be challenging both physically and emotionally. Patients must be vigilant about their food choices and may experience social difficulties, especially during gatherings where food is involved. However, with proper education and support, individuals with phenylketonuria can lead healthy and fulfilling lives. It is essential for families to work closely with healthcare professionals to navigate the complexities of this condition. In addition to dietary management, ongoing research is being conducted to explore new treatment options for phenylketonuria. Gene therapy and enzyme replacement therapy are among the promising avenues being investigated. These advancements could potentially offer more effective ways to manage the condition and improve the quality of life for those affected. In conclusion, phenylketonuria is a serious genetic disorder that requires early diagnosis and lifelong management. By understanding the nature of this condition and adhering to dietary guidelines, individuals with phenylketonuria can minimize the risks associated with elevated phenylalanine levels. The importance of community support, education, and continued research cannot be overstated, as they play a crucial role in improving outcomes for those living with this condition.

苯酮尿症，通常缩写为PKU，是一种罕见的遗传性疾病，影响身体对一种名为苯丙氨酸的氨基酸的处理。这种情况是由于缺乏一种称为苯丙氨酸羟化酶的酶，该酶对于将苯丙氨酸转化为另一种氨基酸酪氨酸至关重要。当苯丙氨酸在体内积累时，可能导致严重的健康问题，特别是影响大脑的发展和功能。理解苯酮尿症不仅对被诊断为该病的人至关重要，也对他们的家庭和医疗提供者至关重要。 苯酮尿症的症状通常在婴儿期表现出来。新生儿出生时可能看起来正常，但如果没有及时发现和干预，他们可能会发展出智力障碍、行为问题和癫痫发作。因此，婴儿进行新生儿筛查测试以识别苯丙氨酸的高水平是至关重要的。如果不加以治疗，后果可能会非常严重且不可逆转。因此，提高对苯酮尿症及其影响的认识对于确保及时的医疗照护至关重要。 饮食管理是苯酮尿症患者治疗的基础。严格的低苯丙氨酸饮食是防止这种氨基酸在体内积累的必要措施。这意味着要避免高蛋白食物，如肉类、鱼类、鸡蛋、乳制品、坚果和某些谷物。相反，患者被鼓励食用特殊的医疗食品和配方，这些食品提供必需的营养素，而不会含有有害水平的苯丙氨酸。定期监测血液中的苯丙氨酸水平也很重要，以确保它们保持在安全范围内。 与苯酮尿症共存需要终身承诺饮食限制，这在身体和情感上都可能是具有挑战性的。患者必须对自己的食物选择保持警惕，并可能在社交场合中遇到困难，特别是在涉及食物的聚会上。然而，通过适当的教育和支持，患有苯酮尿症的人可以过上健康而充实的生活。家庭与医疗专业人员密切合作，以应对这一疾病的复杂性是至关重要的。 除了饮食管理，正在进行的研究也在探索新的治疗选项，以应对苯酮尿症。基因疗法和酶替代疗法是正在调查的有前景的途径。这些进展可能为管理该疾病提供更有效的方法，并改善受影响者的生活质量。 总之，苯酮尿症是一种严重的遗传性疾病，需要早期诊断和终身管理。通过了解这种疾病的性质并遵循饮食指南，患有苯酮尿症的人可以最大限度地降低苯丙氨酸水平升高带来的风险。社区支持、教育和持续研究的重要性不容小觑，因为它们在改善生活在这种疾病中的人们的结果方面发挥着至关重要的作用。