三名迟发性经典型半乳糖血症患者的自然病史。
Natural history of three late-diagnosed classic Galactosemia patients.
作者信息
Quelhas Dulce, Kingma Sandra D K, Jonckheere An I, Smeets-Peels Claudia S, Gomes Daniel Costa, Duro José, Oliveira Anabela, Matthijs Gert, Steinbusch Laura K M, Jaeken Jaak, Rivera Isabel, Rubio-Gozalbo Estela
机构信息
Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal.
出版信息
Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar.
The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.
作者报告了三名迟发性经典半乳糖血症（CG）患者（分别为16岁、19岁和28岁）的自然病史。这是多种因素共同作用的结果：缺乏新生儿筛查、缺乏一些典型的急性新生儿症状以及半乳糖血症筛查呈阴性。本报告强调了新生儿筛查的价值以及对于迟发性表现进行进一步诊断检测的重要性。
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