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 (IVS4ϩ919G3 A). The IVS4ϩ919G3 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 IVS4ϩ919G3 A among both newborns (Ϸ1 in 1600 males) and patients with idiopathic hypertrophic cardiomyopathy in the Taiwan

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OBJECTIVE -To study the effect of body composition and adiponectin on insulin resistance and ␤-cell function in schoolchildren during puberty.RESEARCH DESIGN AND METHODS -Plasma adiponectin level and its relationships with insulin sensitivity and ␤-cell function were analyzed in 500 randomly recruited nondiabetic Taiwanese schoolchildren (245 boys and 255 girls) aged 6 -18 years in a national survey program for diabetes in 1999. Insulin resistance and ␤-cell function were evaluated by homeostasis model assessment (HOMA). Plasma adiponectin concentrations were determined with radioimmunoassay.RESULTS -Plasma glucose levels remained stable, whereas insulin resistance increased with a compensatory rise in ␤-cell function during this period. A transient drop of adiponectin level with a trough at 10 -12 years was found in boys but not in girls. This pubertal drop of adiponectin levels in boys coincides with the sharp rise in testosterone concentration. A negative correlation between testosterone levels and adiponectin concentration was also noted in boys (r ϭ Ϫ0.142, P ϭ 0.032). Plasma adiponectin levels correlated inversely with relative body weight, fasting insulin concentrations, and insulin resistance index by HOMA in boys aged 15-18 years and in girls aged 11-14 years. No association was observed between adiponectin levels and ␤-cell function by HOMA.CONCLUSIONS -There is a transient drop in the level of adiponectin during male puberty, correlated with the increase in testosterone level in boys. Plasma adiponectin levels were inversely correlated with obesity and insulin resistance in boys and girls during the pubertal period. Diabetes Care 27:308 -313, 2004T ype 2 diabetes, once considered to be a disease of adults, is now emerging in children and adolescents worldwide (1,2). In adults, both insulin sensitivity and ␤-cell function decline with aging. According to both crosssectional and longitudinal studies (3-5), these abnormalities are always found in the pre-diabetic state during development of type 2 diabetes. However, little is known about the evolution of the insulin resistance and ␤-cell function of children who are "growing" rather than "aging."Although children in their prediabetic state might share common pathogenesis in terms of insulin resistance and ␤-cell deterioration, the etiology of insulin resistance and the pattern of islet compensation under various stimuli for growth and development may differ markedly from those of adults. Much effort for elucidating transient insulin resistance during puberty has focused on sex steroids (6 -8), which, however, fail to explain the restoration of insulin sensitivity after puberty, when sex hormones have achieved and maintain adult levels. On the other hand, the growth hormone/ IGF-1 axis, a chronologically plausible culprit, is still controversial in its insulinantagonizing effects in children of different ages and sexes (9 -11). Given the tight, temporal coupling between growth and reproductive development, some common signals regulating adolescent growth ...