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Articles by H. J Ho
Total Records ( 1 ) for H. J Ho
  H. Y Lin , K. W Chong , J. H Hsu , H. C Yu , C. C Shih , C. H Huang , S. J Lin , C. H Chen , C. C Chiang , H. J Ho , P. C Lee , C. H Kao , K. H Cheng , C Hsueh and D. M. Niu
 

Background— Fabry disease is a treatable lysosomal storage disorder, which is often misdiagnosed or belatedly diagnosed.

Methods and Results— To determine the disease incidence in the Taiwan Chinese population, a Fabry disease newborn screening study was initiated. A total of 110 027 newborns were screened by assaying the -galactosidase A (-Gal A) activity using dry blood spots. Low plasma -Gal A activity and presence of a Fabry mutation was demonstrated in 45 neonates (3 females). Eight different mutations were identified, including 3 known missense mutations (R112H, A143T, and R356W), 4 novel missense mutations (G104V, M296L, G360C, and K391T), and one known intronic mutation (IVS4+919G->A). The IVS4+919G->A mutation was most common (82% of patients). A total of 20 maternal grandparents of infants harboring this intronic mutation were evaluated by echocardiography, mutation analysis and -Gal A activity assay. The intronic mutation was found in 9 grandfathers and 11 grandmothers. Of these grandparents, 3 grandfathers (33%) but none of the grandmothers had hypertrophic cardiomyopathy. Additionally, 16 males who had been diagnosed with idiopathic hypertrophic cardiomyopathy were screened by mutation analysis and -Gal A activity; 4 (25%) showed deficient plasma -Gal A activity in combination with the intronic mutation.

Conclusion— We found an unexpected high prevalence of the cardiac variant Fabry mutation IVS4+919G->A among both newborns (1 in 1600 males) and patients with idiopathic hypertrophic cardiomyopathy in the Taiwan Chinese population. The early identification of undiagnosed patients allows timely therapeutic intervention providing a better clinical outcome.

 
 
 
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