Galactosemia is an inherited metabolic disorder that affects the breakdown of galactose, a sugar found in milk and dairy products.
这是一种遗传代谢疾病,影响人体分解乳糖(牛奶和乳制品中的一种糖)的能力。
Newborn screening for
galactosemia has become routine in many countries to prevent severe complications.
许多国家已经常规进行新生儿筛查以防止
galactosemia引发的严重并发症。
Children with classic
galactosemia are unable to digest lactose, leading to a buildup of galactose in their blood.
具有典型
galactosemia的孩子无法消化乳糖,导致血液中乳糖积聚。
Early diagnosis and treatment of
galactosemia are crucial to prevent brain damage and other long-term complications.
早期诊断和治疗
galactosemia对于防止脑损伤和其他长期并发症至关重要。
Affected individuals require a strict diet low in galactose to manage their condition and avoid symptoms.
患者需要严格限制低乳糖饮食来控制病情并防止症状出现。
Genetic counseling is offered to couples planning to have children, as
galactosemia is passed down through the family.
对计划生育的夫妇提供遗传咨询,因为
galactosemia是通过家族遗传的。
Symptoms of
galactosemia can vary, but common signs include vomiting, diarrhea, and lethargy in infants.
galactosemia的症状可能不同,但婴儿常见的迹象包括呕吐、腹泻和疲倦。
Doctors prescribe specialized formulas to replace breast milk or formula for infants with
galactosemia.
医生会为
galactosemia的婴儿开处方特殊配方奶粉替代母乳或普通配方奶。
Long-term complications from untreated
galactosemia can lead to intellectual disability and vision problems.
未经治疗的
galactosemia可能导致智力障碍和视力问题。
Research continues to explore new treatments and potential cures for
galactosemia, improving the quality of life for those affected.
对
galactosemia的研究仍在继续,寻找新的治疗方法和潜在的治愈方法,以提高受影响人群的生活质量。
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