Hypovitaminosis D in glycogen storage disease type I.
Publication
, Journal Article
Banugaria, SG; Austin, SL; Boney, A; Weber, TJ; Kishnani, PS
Published in: Mol Genet Metab
April 2010
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.
Duke Scholars
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
April 2010
Volume
99
Issue
4
Start / End Page
434 / 437
Location
United States
Related Subject Headings
- Vitamin D Deficiency
- Middle Aged
- Male
- Hypoglycemia
- Humans
- Glycogen Storage Disease Type I
- Genetics & Heredity
- Female
- Child, Preschool
- Child
Citation
APA
Chicago
ICMJE
MLA
NLM
Banugaria, S. G., Austin, S. L., Boney, A., Weber, T. J., & Kishnani, P. S. (2010). Hypovitaminosis D in glycogen storage disease type I. Mol Genet Metab, 99(4), 434–437. https://doi.org/10.1016/j.ymgme.2009.12.012
Banugaria, Suhrad G., Stephanie L. Austin, Anne Boney, Thomas J. Weber, and Priya S. Kishnani. “Hypovitaminosis D in glycogen storage disease type I.” Mol Genet Metab 99, no. 4 (April 2010): 434–37. https://doi.org/10.1016/j.ymgme.2009.12.012.
Banugaria SG, Austin SL, Boney A, Weber TJ, Kishnani PS. Hypovitaminosis D in glycogen storage disease type I. Mol Genet Metab. 2010 Apr;99(4):434–7.
Banugaria, Suhrad G., et al. “Hypovitaminosis D in glycogen storage disease type I.” Mol Genet Metab, vol. 99, no. 4, Apr. 2010, pp. 434–37. Pubmed, doi:10.1016/j.ymgme.2009.12.012.
Banugaria SG, Austin SL, Boney A, Weber TJ, Kishnani PS. Hypovitaminosis D in glycogen storage disease type I. Mol Genet Metab. 2010 Apr;99(4):434–437.
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
April 2010
Volume
99
Issue
4
Start / End Page
434 / 437
Location
United States
Related Subject Headings
- Vitamin D Deficiency
- Middle Aged
- Male
- Hypoglycemia
- Humans
- Glycogen Storage Disease Type I
- Genetics & Heredity
- Female
- Child, Preschool
- Child