Hypovitaminosis D in glycogen storage disease type I.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Banugaria, SG; Austin, SL; Boney, A; Weber, TJ; Kishnani, PS

Published Date

  • April 2010

Published In

Volume / Issue

  • 99 / 4

Start / End Page

  • 434 - 437

PubMed ID

  • 20060350

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2009.12.012


  • eng

Conference Location

  • United States