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

被引：1

作者：

Lin, Hsiang-Yu ^{[1
,2
,3
,4
,5
,6
]}

Lee, Chung-Lin ^{[1
,2
,3
,4
,5
]}

Chang, Ya-Hui ^{[1
,3
]}

Tu, Yuan-Rong ^{[2
]}

Lo, Yun-Ting ^{[3
]}

Wu, Jun-Yi ^{[3
]}

Niu, Dau-Ming ^{[7
]}

Liu, Mei-Ying ^{[8
]}

Liu, Hsin-Yun ^{[8
]}

Chen, Hsiao-Jan ^{[8
]}

Kao, Shu-Min ^{[8
]}

Wang, Li-Yun ^{[9
]}

Ho, Huey-Jane ^{[9
]}

Chuang, Chih-Kuang ^{[2
,10
]}

Lin, Shuan-Pei ^{[1
,2
,3
,4
,11
]}

机构：

[1] MacKay Mem Hosp, Dept Pediat, 92 Sec 2,Chung Shan North Rd, Taipei 10449, Taiwan

[2] MacKay Mem Hosp, Dept Med Res, 92 Chung Shan N Rd,Sec 2, Taipei 10449, Taiwan

[3] MacKay Mem Hosp, Rare Dis Ctr, Taipei, Taiwan

[4] MacKay Med Coll, Dept Med, New Taipei City, Taiwan

[5] MacKay Jr Coll Med Nursing & Management, Taipei, Taiwan

[6] China Med Univ, China Med Univ Hosp, Dept Med Res, Taichung, Taiwan

[7] Taipei Vet Gen Hosp, Dept Pediat, Taipei, Taiwan

[8] Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, Taiwan

[9] Taipei Inst Pathol, Neonatal Screening Ctr, Taipei, Taiwan

[10] Fu Jen Catholic Univ, Coll Med, Taipei, Taiwan

[11] Natl Taipei Univ Nursing & Hlth Sci, Dept Infant & Child Care, Taipei, Taiwan

来源：

GENETICS IN MEDICINE | 2024年 / 26卷 / 12期

关键词：

Enzyme replacement therapy; Genotype-phenotype correlation; Glycosaminoglycans; Mucopolysaccharidosis IVA; (MPS IVA); Newborn screening program; STEM-CELL TRANSPLANTATION; ELOSULFASE ALPHA; MORQUIO;

D O I：

10.1016/j.gim.2024.101286

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：20

共 50 条

[31] Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan [J].

Hattori, Yusuke ;

Sawada, Takaaki ;

Kido, Jun ;

Sugawara, Keishin ;

Yoshida, Shinichiro ;

Matsumoto, Shirou ;

Inoue, Takahito ;

Hirose, Shinichi ;

Nakamura, Kimitoshi .

MOLECULAR GENETICS AND METABOLISM REPORTS, 2023, 37

[32] Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation [J].

Carbajal-Rodriguez, Luis M. ;

Perez-Garcia, Martin ;

Rodriguez-Herrera, Raymundo ;

Salazar Rosales, Haydee ;

Olaya-Vargas, Alberto .

HELIYON, 2021, 7 (08)

[33] Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth [J].

Chien, Yin-Hsiu ;

Lee, Ni-Chung ;

Chen, Chun-An ;

Tsai, Fuu-Jen ;

Tsai, Wen-Hui ;

Shieh, Jeng-Yi ;

Huang, Hsiang-Ju ;

Hsu, Wei-Chung ;

Tsai, Tzu-Hsun ;

Hwu, Wuh-Liang .

JOURNAL OF PEDIATRICS, 2015, 166 (04) :985-U302

[34] International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome [J].

Parini, Rossella ;

Broomfield, Alexander ;

Cleary, Maureen A. ;

De Meirleir, Linda ;

Di Rocco, Maja ;

Fathalla, Waseem M. ;

Guffon, Nathalie ;

Lampe, Christina ;

Lund, Allan M. ;

Scarpa, Maurizio ;

Tylki-Szymanska, Anna ;

Zeman, Jiri .

ACTA PAEDIATRICA, 2018, 107 (12) :2059-2065

[35] Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I [J].

Dickson, Patricia I. ;

Hanson, Stephen ;

McEntee, Michael F. ;

Vite, Charles H. ;

Vogler, Carole A. ;

Mlikotic, Anton ;

Chen, Agnes H. ;

Ponder, Katherine P. ;

Haskins, Mark E. ;

Tippin, Brigette L. ;

Le, Steven Q. ;

Passage, Merry B. ;

Guerra, Catalina ;

Dierenfeld, Ashley ;

Jens, Jackie ;

Snella, Elizabeth ;

Kan, Shih-hsin ;

Ellinwood, N. Matthew .

MOLECULAR GENETICS AND METABOLISM, 2010, 101 (2-3) :115-122

[36] Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients [J].

Giugliani, R. ;

Harmatz, P. ;

Jones, S. A. ;

Mendelsohn, N. J. ;

Vellodi, A. ;

Qiu, Y. ;

Hendriksz, C. J. ;

Vijayaraghavan, S. ;

Whiteman, D. A. H. ;

Pano, A. .

MOLECULAR GENETICS AND METABOLISM REPORTS, 2017, 12 :2-7

[37] Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study [J].

Chuang, Chih-Kuang ;

Lin, Hsiang-Yu ;

Wang, Tuan-Jen ;

Huang, Sung-Fa ;

Lin, Shuan-Pei .

BMJ OPEN, 2017, 7 (07)

[38] Long-term Amelioration of Feline Mucopolysaccharidosis VI After AAV-mediated Liver Gene Transfer [J].

Cotugno, Gabriella ;

Annunziata, Patrizia ;

Tessitore, Alessandra ;

O'Malley, Thomas ;

Capalbo, Anita ;

Faella, Armida ;

Bartolomeo, Rosa ;

O'Donnell, Patricia ;

Wang, Ping ;

Russo, Fabio ;

Sleeper, Meg M. ;

Knox, Van W. ;

Fernandez, Steven ;

Levanduski, Leah ;

Hopwood, John ;

De Leonibus, Elvira ;

Haskins, Mark ;

Auricchio, Alberto .

MOLECULAR THERAPY, 2011, 19 (03) :461-469

[39] Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy [J].

Garcia, Paula ;

Phillips, Dawn ;

Johnson, JoAnn ;

Martin, Kenneth ;

Randolph, Linda M. ;

Rosenfeld, Howard ;

Harmatz, Paul .

MOLECULAR GENETICS AND METABOLISM, 2021, 133 (01) :100-108

[40] Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa [J].

Mitchell, John J. ;

Burton, Barbara K. ;

Bober, Michael B. ;

Campeau, Philippe M. ;

Cohen, Shelda ;

Dosenovic, Sara ;

Ellaway, Carolyn ;

Bhattacharya, Kaustuv ;

Guffon, Nathalie ;

Hinds, David ;

Lail, Alice ;

Lin, Shuan-Pei ;

Magner, Martin ;

Raiman, Julian ;

Schwartz-Sagi, Liat ;

Stepien, Karolina M. .

MOLECULAR GENETICS AND METABOLISM, 2022, 137 (1-2) :164-172

← 1 2 3 4 5 →