Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan

IF 6.6 1区医学 Q1 GENETICS & HEREDITY

Genetics in Medicine Pub Date : 2024-10-04 DOI:10.1016/j.gim.2024.101286

Hsiang-Yu Lin , Chung-Lin Lee , Ya-Hui Chang , Yuan-Rong Tu , Yun-Ting Lo , Jun-Yi Wu , Dau-Ming Niu , Mei-Ying Liu , Hsin-Yun Liu , Hsiao-Jan Chen , Shu-Min Kao , Li-Yun Wang , Huey-Jane Ho , Chih-Kuang Chuang , Shuan-Pei Lin

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引用次数: 0

Abstract

Purpose

Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalactosamine-6-sulfatase.

Methods

From September 2019 to October 2023, a total of 264,843 Taiwanese newborns underwent screening for MPS IVA using dried blood spots and tandem mass spectrometry.

Results

Among the 95 referred infants, 9 (9%) were confirmed to have MPS IVA (group 1), 18 (19%) were highly suspected to have MPS IVA (group 2), 61 (64%) were identified as heterozygotes of MPS IVA (group 3), and 7 (7%) were determined not to have MPS IVA (group 4). A total of 34 different GALNS (HGNC:4122) gene variants were identified through our MPS IVA newborn screening program. The most prevalent variant was c.857C>T p.(Thr286Met), found in 33 cases (29%), followed by c.953T>G p.(Met318Arg) in 22 cases (19%). Intravenous enzyme replacement therapy was initiated in 5 patients at ages ranging from 0.3 to 1.7 years. The estimated incidence of MPS IVA in this screening program was 3.4 per 100,000 live births.

Conclusion

Because of the progressive nature of MPS IVA, an early diagnosis facilitated by newborn screening and prompt initiation of enzyme replacement therapy before irreversible organ damage occurs may result in improved clinical outcomes.

查看原文本刊更多论文

台湾实施新生儿黏多醣症IVA型筛检及长期监测。

背景：粘多糖病IVA（MPS IVA）是一种罕见的溶酶体储积症，由N-乙酰半乳糖胺-6-硫酸酯酶（GALNS）缺乏引起：从2019年9月至2023年10月，共有264843名台湾新生儿接受了MPS IVA筛查，筛查采用干血斑和串联质谱法：在95名转诊婴儿中，9人（9%）被确诊为患有MPS IVA（第1组），18人（19%）被高度怀疑患有MPS IVA（第2组），61人（64%）被确定为MPS IVA的杂合子（第3组），7人（7%）被确定为未患有MPS IVA（第4组）。通过我们的 MPS IVA 新生儿筛查项目，共发现了 34 种不同的 GALNS（HGNC:4122）基因变异。最常见的变异是 c.857C>T p.(Thr286Met)，有 33 例（29%），其次是 c.953T>G p.(Met318Arg)，有 22 例（19%）。五名患者在 0.3 至 1.7 岁时开始接受静脉酶替代疗法（ERT）。在这项筛查计划中，MPS IVA 的估计发病率为每 10 万名活产婴儿中 3.4 例：结论：由于 MPS IVA 具有渐进性，通过新生儿筛查及早诊断，并在出现不可逆转的器官损伤之前及时启动 ERT，可改善临床预后。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.