Document Detail

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).
MedLine Citation:
PMID:  20821055     Owner:  NLM     Status:  MEDLINE    
Newborn screening for Fabry disease in Taiwan Chinese has revealed a high incidence of the late-onset GLA mutation IVS4 + 919G→A (∼1 in 1,500-1,600 males). We studied 94 adults with this mutation [22 men, 72 women; mean age: men 57.8 ± 6.0 (range 42-68), women 39.1 ± 14.1 years (range 19-82)]. Plasma α-galactosidase A activity assay was 10.4 ± 11.2% of normal in the men and 48.6 ± 19.5% of normal in the women. Echocardiography in 90 of the adults revealed left ventricular hypertrophy (LVH) in 19 (21%), including 14 of 21 men (67%) and 5 of 69 women (7%). Microalbuminuria, based on the urine albumin-to-creatinine ratio measured on at least two occasions, was present in 17 of 86 subjects (20%) (men: 5/20, 25%; women 12/66, 18%). At least one ocular manifestation consistent with Fabry disease was present in 41 of 52 subjects (79%) who underwent ophthalmologic examination, including 8 (15%) with conjunctival vessel tortuosity, 15 (29%) with cornea verticillata, 10 (19%) with Fabry cataract, and 34 (65%) with retinal vessel tortuosity. Among subjects over 40 years of age, men were more likely than women to have LVH [14/21 (67%) vs 5/25 (20%), p < 0.001]. Cardiovascular, renal and ocular abnormalities are highly prevalent in adult Taiwan Chinese subjects with the Fabry mutation IVS4 + 919G→A. Our findings contribute to the limited understanding of the course of this late-onset disease variant and underscore the need for close follow up in such patients.
Hsiang-Yu Lin; Cheng-Hung Huang; Hsiao-Chi Yu; Kah-Wai Chong; Ju-Hui Hsu; Pi-Chang Lee; Kang-Hsiang Cheng; Chuan-Chi Chiang; Huey-Jane Ho; Shuan-Pei Lin; Shih-Jen Chen; Po-Kang Lin; Dau-Ming Niu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-09-07
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  33     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-29     Completed Date:  2011-01-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  619-24     Citation Subset:  IM    
Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
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MeSH Terms
Aged, 80 and over
Albuminuria / enzymology,  genetics
Asian Continental Ancestry Group / genetics*
Biological Markers / blood
China / ethnology
Clinical Enzyme Tests*
DNA Mutational Analysis
Diagnostic Techniques, Ophthalmological
Eye Diseases / enzymology,  genetics
Fabry Disease / diagnosis,  enzymology,  ethnology,  genetics*
Genetic Predisposition to Disease
Hypertrophy, Left Ventricular / enzymology,  genetics
Middle Aged
Taiwan / epidemiology
Young Adult
alpha-Galactosidase / blood,  genetics*
Reg. No./Substance:
0/Biological Markers; EC

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