Department of Mother and Child Care, "Iuliu Haţieganu" University of Medicine and Pharmacy, 2-4 Câmpeni Street, 400217 Cluj-Napoca, Romania.
Department of Bromatology, Hygiene, Nutrition, "Iuliu Haţieganu" University of Medicine and Pharmacy, 6 Pasteur Street, 400349 Cluj-Napoca, Romania.
Nutrients. 2022 Dec 20;15(1):10. doi: 10.3390/nu15010010.
Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the enzymes involved in the metabolism of galactose. The first description of galactosemia in newborns dates from 1908, ever since complex research has been performed on cell and animal models to gain more insights into the molecular and clinical bases of this challenging disease. In galactosemia, the newborn appears to be born in proper health, having a window of opportunity before developing major morbidities that may even be fatal following ingestion of milk that contains galactose. Galactosemia cannot be cured, but its negative consequences on health can be avoided by establishing precocious diagnosis and treatment. All the foods that contain galactose should be eliminated from the diet when there is a suspicion of galactosemia. The neonatal screening for galactosemia can urge early diagnosis and intervention, preventing complications. All galactosemia types may be detected during the screening of newborns for this disorder. The major target is, however, galactose-1-phosphate uridyltransferase (GALT) deficiency galactosemia, which is diagnosed by applying a combination of total galactose and GALT enzyme analysis as well as, in certain programs, mutation screening. Most critically, infants who exhibit symptoms suggestive of galactosemia should undergo in-depth testing for this condition even when the newborn screening shows normal results. The decision to enroll global screening for galactosemia among the specific population still faces many challenges. In this context, the present narrative review provides an updated overview of the incidence, clinical manifestations, diagnosis, therapy, and prognosis of galactosemia, questioning under the dome of these aspects related to the disease the value of its neonatal monitoring.
半乳糖血症是一种先天性代谢紊乱，由参与半乳糖代谢的酶之一的活性缺乏引起。对新生儿半乳糖血症的首次描述可以追溯到 1908 年，此后对细胞和动物模型进行了复杂的研究，以更深入地了解这种具有挑战性的疾病的分子和临床基础。在半乳糖血症中，新生儿似乎出生时健康状况良好，在出现可能致命的严重疾病之前，有一个机会窗口，即使在摄入含有半乳糖的牛奶后也会出现这种情况。半乳糖血症无法治愈，但通过尽早诊断和治疗，可以避免其对健康的负面影响。当怀疑患有半乳糖血症时，应从饮食中消除所有含有半乳糖的食物。新生儿半乳糖血症筛查可促使早期诊断和干预，预防并发症。所有半乳糖血症类型都可在对新生儿进行这种疾病的筛查中检测到。然而，主要目标是检测半乳糖-1-磷酸尿苷转移酶（GALT）缺乏型半乳糖血症，通过应用总半乳糖和 GALT 酶分析以及在某些方案中进行突变筛查来诊断。最重要的是，即使新生儿筛查结果正常，表现出半乳糖血症症状的婴儿也应接受该病症的深入检测。在特定人群中开展全球半乳糖血症筛查的决定仍然面临许多挑战。在这种情况下，本叙述性综述提供了对半乳糖血症的发病率、临床表现、诊断、治疗和预后的最新概述，在这些与疾病相关的方面提出质疑，探讨了新生儿监测的价值。
