galactosemia

简明释义

英[ɡəlæktəˈsiːmiə]美[ɡəˌlæktəˈsɪmɪə]

n. [遗] 半乳糖血（症）

英英释义

单词用法

同义词

反义词

例句

1.The classical form of galactosemia is characterized by vomiting, diarrhea, jaundice and failure to thrive within a few days after birth.

半乳糖血症的典型症状是婴儿出生几天后出现呕吐，腹泻，黄疸和营养不能被吸收。

2.The classical form of galactosemia is characterized by vomiting, diarrhea, jaundice and failure to thrive within a few days after birth.

半乳糖血症的典型症状是婴儿出生几天后出现呕吐，腹泻，黄疸和营养不能被吸收。

3.Dietary management for galactosemia (半乳糖血症) typically involves eliminating lactose from the diet.

对于galactosemia（半乳糖血症）的饮食管理通常涉及从饮食中消除乳糖。

4.Newborn screening tests often include tests for conditions like galactosemia (半乳糖血症) to ensure early diagnosis.

新生儿筛查测试通常包括对像galactosemia（半乳糖血症）这样的疾病进行检测，以确保早期诊断。

5.Parents of children diagnosed with galactosemia (半乳糖血症) must follow a strict dietary plan.

被诊断为galactosemia（半乳糖血症）的孩子的父母必须遵循严格的饮食计划。

6.It is crucial for healthcare providers to identify galactosemia (半乳糖血症) in newborns as it can lead to serious complications.

医疗保健提供者识别新生儿中的galactosemia（半乳糖血症）至关重要，因为它可能导致严重并发症。

7.Symptoms of galactosemia (半乳糖血症) can include jaundice, vomiting, and lethargy in infants.

在婴儿中，galactosemia（半乳糖血症）的症状可能包括黄疸、呕吐和嗜睡。

作文

Galactosemia is a rare genetic metabolic disorder that affects how the body processes the sugar galactose. This condition arises when there is a deficiency of one of the enzymes needed to convert galactose into glucose, which is the primary source of energy for our bodies. When an individual has galactosemia (半乳糖血症), the accumulation of galactose in the body can lead to serious health issues, especially if not diagnosed and managed early. Symptoms of galactosemia (半乳糖血症) can include jaundice, vomiting, lethargy, and poor weight gain in infants. If left untreated, this condition can result in long-term complications such as liver damage, cataracts, and intellectual disability.The genetic basis of galactosemia (半乳糖血症) lies in mutations in the GALT gene, which encodes the enzyme galactose-1-phosphate uridylyltransferase. This enzyme plays a crucial role in the metabolism of galactose. When the enzyme is deficient or absent, galactose and its byproducts accumulate in the bloodstream, leading to toxicity. Newborn screening programs have been established in many countries to detect galactosemia (半乳糖血症) at birth, allowing for early intervention and management.Management of galactosemia (半乳糖血症) primarily involves dietary restrictions. Individuals diagnosed with this condition must avoid foods containing galactose, such as milk and dairy products, as well as certain legumes and some fruits. A diet low in galactose can help prevent the harmful effects of the condition and promote healthy growth and development. In addition to dietary management, regular monitoring and follow-up with healthcare providers are essential to ensure that individuals with galactosemia (半乳糖血症) are thriving and to address any potential complications that may arise.Living with galactosemia (半乳糖血症) can be challenging, particularly for families who must navigate dietary restrictions from a young age. Support groups and resources are available for families affected by galactosemia (半乳糖血症), providing education, emotional support, and connections to others facing similar challenges. It is important for families to stay informed about the latest research and management strategies for galactosemia (半乳糖血症) to ensure the best possible outcomes for their loved ones.In conclusion, galactosemia (半乳糖血症) is a significant metabolic disorder that requires careful management and dietary adjustments. Early diagnosis through newborn screening is critical, as it allows for timely intervention and reduces the risk of severe complications. With appropriate care and support, individuals with galactosemia (半乳糖血症) can lead fulfilling lives despite the challenges posed by this condition. Awareness and understanding of galactosemia (半乳糖血症) are essential for improving the quality of life for those affected and ensuring they receive the necessary care and support.

半乳糖血症是一种罕见的遗传代谢障碍，影响身体处理糖分半乳糖的能力。当缺乏将半乳糖转化为葡萄糖所需的酶时，就会出现这种情况。葡萄糖是我们身体的主要能量来源。当一个人患有galactosemia（半乳糖血症）时，体内半乳糖的积累可能会导致严重的健康问题，尤其是在未能及早诊断和管理的情况下。galactosemia（半乳糖血症）的症状包括黄疸、呕吐、嗜睡和婴儿期体重增长缓慢。如果不加以治疗，这种情况可能导致长期并发症，如肝损伤、白内障和智力残疾。galactosemia（半乳糖血症）的遗传基础在于GALT基因中的突变，该基因编码酶半乳糖-1-磷酸尿苷转移酶。该酶在半乳糖的代谢中发挥着关键作用。当该酶缺乏或缺失时，半乳糖及其副产品在血液中积累，导致毒性。在许多国家，已经建立了新生儿筛查项目，以便在出生时检测galactosemia（半乳糖血症），从而实现早期干预和管理。galactosemia（半乳糖血症）的管理主要涉及饮食限制。被诊断为此病的人必须避免含有半乳糖的食物，例如牛奶和乳制品，以及某些豆类和一些水果。低半乳糖饮食可以帮助防止该病的有害影响，并促进健康的生长和发育。除了饮食管理，定期监测和与医疗服务提供者的随访对于确保患有galactosemia（半乳糖血症）的人健康成长以及应对可能出现的任何并发症至关重要。与galactosemia（半乳糖血症）共存可能会很具挑战性，尤其是对于必须从小就适应饮食限制的家庭。针对受galactosemia（半乳糖血症）影响的家庭，提供了支持小组和资源，以提供教育、情感支持以及与面临类似挑战的其他人的联系。家庭保持对galactosemia（半乳糖血症）最新研究和管理策略的信息至关重要，以确保其亲人获得最佳结果。总之，galactosemia（半乳糖血症）是一种重要的代谢障碍，需要仔细管理和饮食调整。通过新生儿筛查进行早期诊断至关重要，因为这可以及时干预并降低严重并发症的风险。通过适当的护理和支持，患有galactosemia（半乳糖血症）的人可以过上充实的生活，尽管面临这一疾病带来的挑战。提高对galactosemia（半乳糖血症）的认识和理解对于改善受影响者的生活质量至关重要，并确保他们获得必要的护理和支持。