Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 960-964

  Lin, Hsiang Yu ^a,b,c   Lin, Shuan Pei ^b,c,d   Chuang, Chih Kuang ^b,e   Niu, Dau Ming ^a,f   Chen, Ming Ren ^b,c   Tsai, Fuu Jen ^g   Chao, Mei Chyn ^h   Chiu, Pao Ching ⁱ   Lin, Shio Jean ^j   Tsai, Li Ping ^k   Hwu, Wuh Liang ^l   Lin, Ju Li ^m  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^d NATIONAL TAIPEI UNIVERSITY OF NURSING AND HEALTH SCIENCES   (Taiwan)

^e FU JEN CATHOLIC UNIVERSITY   (Taiwan)

^f TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^g CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^h KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

ⁱ KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^j NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^k BUDDHIST TZU CHI GENERAL HOSPITAL   (Taiwan)

^l NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^m CHANG GUNG CHILDREN S HOSPITAL   (Taiwan)

more..

Author keywords

Incidence; Mucopolysaccharidoses; Mucopolysaccharidosis II; Taiwan

Indexed keywords

ARTICLE; CONTROLLED STUDY; FEMALE; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; MAJOR CLINICAL STUDY; MALE; MAROTEAUX LAMY SYNDROME; MORBIDITY; MORQUIO SYNDROME; PRIORITY JOURNAL; SANFILIPPO SYNDROME; TAIWAN;

FEMALE; HUMANS; INCIDENCE; MALE; MUCOPOLYSACCHARIDOSES; TAIWAN;

EID: 66849115638     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32781     Document Type: Article

References (26)

1. Applegarth DA, Toone JR, Lowry RB. 2000. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 105:e10.
2. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschutter A, Kampmann C, Beck M. 2005. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011-1017.
3. Beck M. 2007. New therapeutic options for lysosomal storage disorders: Enzyme replacement, small molecules and gene therapy. Hum Genet 121:1 -22.
4. Chuang CK, Lin SP. 2007. Neurochemical changes and therapeutical approaches in mucopolysaccharidoses. In: Surendran S, Aschner M, Bhatnagar M, editors. Neurochemistry of metabolic diseases-lysosomal storage diseases, phenylketouria and Canavan disease. Kerala, India: Transworld Research Network. p 1 -20.
5. Coelho JC, Wajner M, Burin MG, Vargas CR, Giugliani R. 1997. Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur J Pediatr 156:650-654.
6. Emre S, Terzioglu M, Co kun T, Tokath A, Ozalp I, Muller V, Hopwood J. 2002. Biochemical and molecular analysis of mucopolysaccharidoses in Turkey. Turk J Pediatr 44:13-17.
7. Lee-Chen GJ, Lin SP, Tang YF, Chin YW. 1999. Mucopolysaccharidosis type I: Characterization of novel mutations affecting alpha-L-iduroni- dase activity. Clin Genet 56:66-70.
8. Lee-Chen GJ, Lin SP, Ko MH, Chuang CK, Chen CP, Lee HH, Cheng SC, Shen CH, Tseng KL, Li CL. 2002a. Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). Clin Genet 61:192-197.
9. Lee-Chen GJ, Lin SP, Lin SZ, Chuang CK, Hsiao KT, Huang CF, Lien WC. 2002b. Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet 39:E3.
10. Lin SP, Chang JH, Lee-Chen GJ, Lin DS, Lin HY, Chuang CK. 2006. Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: Biochemical and linkage studies ofthe iduronate-2-sulfatase gene defects in MPS II patients and carriers. Clin Chim Acta 369:29-34.
11. Lin WD, Lin SP, Wang CH, Hwu WL, Chuang CK, Lin SJ, Tsai Y, Chen CP, Tsai FJ. 2008. Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. Clin Chim Acta 394:89-93.
12. Lowry RB, RenwickDH. 1971. Relative frequency of the Hurler and Hunter syndromes. N Engl J Med 284:221-222.
13. Lowry RB, Applegarth DA, Toone JR, MacDonald E, Thunem NY. 1990. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet 85:389-390.
14. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. 1999. Prevalence of lysosomal storage disorders. JAMA 281:249-254.
15. Michelakakis H, Dimitriou E, Tsagaraki S, Giouroukos S, Schulpis K, Bartsocas CS. 1995. Lysosomal storage diseases in Greece. Genet Couns 6:43-47.
16. Nelson J. 1997. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101:355-358.
17. Nelson J, Kenny B, O'Hara D, Harper A, Broadhead D. 1993. Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis. J Clin Pathol 46:370-371.
18. Nelson J, Crowhurst J, Carey B, Greed L. 2003. Incidence of the mucopo- lysaccharidoses in Western Australia. Am J Med Genet Part A 123A: 310-313.
19. Neufeld EF, Muenzer J. 1995. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, SlyWS, Valle D, editors. The metabolic and molecular bases of inherited disease, 7th edition. New York:Graw-Hill. p 2465.
20. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. 1999. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151 -156.
21. Schaap T, Bach G. 1980. Incidence of mucopolysaccharidoses in Israel: Is Hunter disease a ''Jewish disease''? Hum Genet 56:221-223.
22. Venkat-Raman N, Sebire NJ, MurphyKW. 2006. Recurrent fetal hydrops due to mucopolysaccharidoses type VII. Fetal Diagn Ther 21:250-254.
23. Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W. 1996. Molecular analysis ofpatients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. Am J Hum Genet 58:457-471.
24. Wang D, Eadala B, Sadilek M, Chamoles NA, Turecek F, Scott CR, Gelb MH. 2005. Tandem mass spectrometric analysis ofdried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 51:898-900.
25. WangD, Wood T, SadilekM, Scott CR, TurecekF, Gelb MH. 2007. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin Chem 53:137-140.
26. Yang CF, Tsai FJ, Lin SP, Lee CC, Wu JY. 2001. A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis. Hum Mutat 18:254.