Incidence of the mucopolysaccharidoses in Western Australia

被引：162

作者：

Nelson, J

Crowhurst, J

Carey, B

Greed, L

机构：

[1] King Edward Mem Hosp Women, Genet Serv Western Australia, Perth, WA 6008, Australia

[2] Disabil Serv Commiss Western Australia, Perth, WA, Australia

[3] Womens & Childrens Hosp, Dept Chem Pathol, Adelaide, SA, Australia

[4] Princess Margaret Hosp Children, Dept Clin Biochem, Perth, WA, Australia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 123A卷 / 03期

关键词：

incidence; mucopolysaccharidosis; Western Australia;

D O I：

10.1002/ajmg.a.20314

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An epidemiological study of the mucopoly-saccharidoses in Western Australia (WA) using multiple ascertainment sources was carried out and the incidence rate for the period 1969-1996 was estimated. An incidence of approximately 1 in 107,000 live births was obtained for MPS IH (Hurler phenotype); I in 320,000 live births (1 in 165,000 male live births) for MPS II (Hunter Syndrome); 1, in 58,000 for MPS III (Sanfilippo Syndrome); 1 in 640,000 for MPS IVA (Morquio Syndrome type A), and 1 in 320,000 for MPS VI (Maroteaux-Lamy Syndrome). The overall incidence for all types of muco-polysaccharidosis was approximately 1 in 29,000 live births. A comparison is made with incidence estimates obtained from other published studies. (C) 2003 Wiley-Liss, Inc.

引用

页码：310 / 313

页数：4

共 14 条

[1] Incidence of inborn errors of metabolism in British Columbia, 1969-1996 [J].