Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Mol Genet Metab. 2010 Apr;99(4):434-7. doi: 10.1016/j.ymgme.2009.12.012. Epub 2009 Dec 21.
Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had suboptimal levels (<30 ng/ml) of 25-hydroxyvitamin-D (25(OH)D) despite supplementation of vitamin D and/or vitamin D + calcium based on WHO standards in 24/26 (92.3%) patients. The restrictive nature of the GSD I diet, metabolic derangements and intestinal malabsorption seen in GSD I are possible reasons for the observed hypovitaminosis D. Our results suggest that measurement of 25(OH)D should be considered in the routine evaluation of GSD I patients.
糖原贮积病 I 型（GSD I）是由葡萄糖-6-磷酸酶复合物的遗传缺陷引起的，导致空腹低血糖、乳酸性酸中毒、高尿酸血症和高脂血症。在我们的研究中，26 名 GSD I 患者中有 16 名（61.5%）尽管根据世界卫生组织标准，26 名患者中有 24 名（92.3%）补充了维生素 D 和/或维生素 D+钙，但 25-羟维生素 D（25（OH）D）水平仍不理想（<30ng/ml）。GSD I 中限制饮食、代谢紊乱和肠道吸收不良可能是观察到的维生素 D 缺乏的原因。我们的研究结果表明，在常规评估 GSD I 患者时，应考虑测量 25（OH）D。
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