Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

Author:

Albano Lilian M. J.,Sugayama Sofia S. M. M.,Bertola Débora R.,Andrade Carlos E. F.,Utagawa Cláudia Y.,Puppi Flávia,Nader Helena B.,Toma Leny,Coelho Janice,Leistner Sandra,Burin Maira,Giugliani Roberto,Chong A. Kim

Abstract

The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler -- MPS I (1 case); Hunter -- MPS II (2 cases); Sanfilippo -- MPS III (2 cases); Morquio -- MPS IV (4 cases); Maroteaux-Lamy -- MPS VI (9 cases); and Sly -- MPS VII (1 case). DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.

Publisher

FapUNIFESP (SciELO)

Subject

General Medicine

Reference11 articles.

1. McKusick's Heritable disorders of connective tissue;WHITLEY CB,1993

2. The metabolic and molecular bases of inherited diseases;NEUFELD EF,1995

3. A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses;LEISTNER S;Gen Mol Biol,1998

4. Relative frequency of the Hurler and Hunter syndromes (letter);LOWRY RB;N Engl J Med,1971

5. Incidence of mucopolysaccharidoses in Israel: is Hunter disease a Jewish disease?;SCHAAP T;Human Genet,1980

Cited by 16 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3