Literature DB >> 19396827

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004.

Hsiang-Yu Lin1, Shuan-Pei Lin, Chih-Kuang Chuang, Dau-Ming Niu, Ming-Ren Chen, Fuu-Jen Tsai, Mei-Chyn Chao, Pao-Ching Chiu, Shio-Jean Lin, Li-Ping Tsai, Wuh-Liang Hwu, Ju-Li Lin.   

Abstract

Previous studies on the incidence of the various types of mucopolysaccharidoses (MPS) in different populations have shown considerable variation. However, information regarding the incidence of MPS in the Asian population is lacking. An epidemiological study of the MPS disorders in Taiwan using multiple ascertainment sources was undertaken, and incidences of different types of MPS during the period of 1984-2004 were estimated. We compared our data with previous reports in different populations. The combined birth incidence for all MPS cases was 2.04 per 100,000 live births. MPS II (Hunter syndrome) had the highest calculated birth incidence of 1.07 per 100,000 live births (2.05 per 100,000 male live births), comprising 52% of all MPS cases diagnosed. The birth incidences of MPS I (Hurler syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), and VI (Maroteaux-Lamy syndrome) were 0.11, 0.39, 0.33, and 0.14 per 100,000 live births, respectively, which accounted for 6%, 19%, 16%, and 7% of all MPS, respectively. No cases of MPS III D (Sanfilippo syndrome type D), MPS IV B (Morquio syndrome type B), MPS VII (Sly syndrome) or MPS IX were ascertained during the study period. Overall incidence of MPS in Taiwan was consistent with that reported in Western populations. However, in contrast to the higher incidence of MPS I in most Western populations, this study showed a higher incidence of MPS II in Taiwan. It remains to be investigated whether this discrepancy is attributed to the under-diagnosis of MPS I in Taiwan or to ethnic differences.

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Year:  2009        PMID: 19396827     DOI: 10.1002/ajmg.a.32781

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  72 in total

Review 1.  An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network.

Authors:  Sung Yoon Cho; Young Bae Sohn; Dong-Kyu Jin
Journal:  Intractable Rare Dis Res       Date:  2014-08

2.  Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.

Authors:  Min-Ju Chan; Hsuan-Chieh Liao; Michael H Gelb; Chih-Kuang Chuang; Mei-Ying Liu; Hsiao-Jan Chen; Shu-Min Kao; Hsiang-Yu Lin; You-Hsin Huang; Arun Babu Kumar; Naveen Kumar Chennamaneni; Nagendar Pendem; Shuan-Pei Lin; Chuan-Chi Chiang
Journal:  J Pediatr       Date:  2018-11-06       Impact factor: 4.406

3.  Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population.

Authors:  Laura López-Marín; Luis G Gutiérrez-Solana; Luis Aldamiz-Echevarria Azuara; Rogelio Simón de Las Heras; Anna Duat Rodríguez; Verónica Cantarín Extremera
Journal:  JIMD Rep       Date:  2013-02-02

4.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

5.  Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).

Authors:  Sung Yoon Cho; Rimm Huh; Mi Sun Chang; Jieun Lee; Younghee Kwun; Se Hyun Maeng; Su Jin Kim; Young Bae Sohn; Sung Won Park; Eun-Kyung Kwon; Sun Ju Han; Jooyoun Jung; Dong-Kyu Jin
Journal:  J Korean Med Sci       Date:  2014-01-28       Impact factor: 2.153

6.  Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.

Authors:  Tsutomu Shimada; Joan Kelly; William A LaMarr; Naomi van Vlies; Eriko Yasuda; Robert W Mason; William Mackenzie; Francyne Kubaski; Roberto Giugliani; Yasutsugu Chinen; Seiji Yamaguchi; Yasuyuki Suzuki; Kenji E Orii; Toshiyuki Fukao; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2014-07-21       Impact factor: 4.797

Review 7.  Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Authors:  E I Parker; M Xing; A Moreno-De-Luca; E Harmouche; M R Terk
Journal:  Br J Radiol       Date:  2013-11-14       Impact factor: 3.039

8.  Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China.

Authors:  Xueru Chen; Wenjuan Qiu; Jun Ye; Lianshu Han; Xuefan Gu; Huiwen Zhang
Journal:  J Hum Genet       Date:  2016-01-07       Impact factor: 3.172

Review 9.  Newborn screening and diagnosis of mucopolysaccharidoses.

Authors:  Shunji Tomatsu; Tadashi Fujii; Masaru Fukushi; Toshihiro Oguma; Tsutomu Shimada; Miho Maeda; Kazuhiro Kida; Yuniko Shibata; Hideyuki Futatsumori; Adriana M Montaño; Robert W Mason; Seiji Yamaguchi; Yasuyuki Suzuki; Tadao Orii
Journal:  Mol Genet Metab       Date:  2013-06-21       Impact factor: 4.797

10.  Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Authors:  I V D Schwartz; L L C Pinto; G Breda; L Lima; M G Ribeiro; J G Mota; A X Acosta; P Correia; D D G Horovitz; C G G Porciuncula; E Lipinski-Figueiredo; A C Fett-Conte; R P Oliveira Sobrinho; D Y J Norato; A C Paula; C A Kim; A R Duarte; R Boy; S Leistner-Segal; M G Burin; R Giugliani
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

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