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由于近代医学、生物学及生物化学检测手段方面的进展,使许多先天性代谢紊乱疾病有可能在早期进行筛查。代谢紊乱病及其相关的疾病的早期诊断,在60年代已成为预防医学中的一个重要领域。这类代谢疾病极大多数是因遗传性酶的缺陷所致。半乳糖血症便是其中之一。对此病若不及早诊断和治疗,不仅给患者带来一生的痛苦,而且给家庭和社会增添经济和教育方面的负担。多数半乳糖血症的患者,在出生后1周内
Due to the advances in modern medical, biological and biochemical detection methods, many congenital metabolic disorders are likely to be screened early. The early diagnosis of metabolic disorders and their associated diseases has become an important area of preventive medicine in the 1960s. The vast majority of these metabolic diseases due to genetic defects caused by enzymes. Galactosemia is one of them. Failure to diagnose and treat this disease early will not only bring a lifetime of suffering to patients, but also add financial and educational burdens to the family and society. Most galactosemia patients, within 1 week after birth