Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1999009 | Molecular Genetics and Metabolism | 2010 | 4 Pages |
Abstract
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.
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Authors
Suhrad G. Banugaria, Stephanie L. Austin, Anne Boney, Thomas J. Weber, Priya S. Kishnani,