<script type="text/javascript">
<!--
document.write('<div id="oa_widget"></div>');
document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=undefined&type=result"></script>');
-->
</script>

COPY SCRIPT

For further information contact us at helpdesk@openaire.eu

Hypovitaminosis D in glycogen storage disease type I

descriptionPublicationkeyboard_double_arrow_right Article 01 Apr 2010Publisher:Elsevier BVJournal:Molecular Genetics and Metabolism, volume 99, pages 434-437 (issn: 1096-7192,

Authors: Anne Boney; Stephanie Austin; Priya S. Kishnani; Thomas Weber; Suhrad G. Banugaria;

doi: 10.1016/j.ymgme.2009.12.012

pmid: 20060350

Hypovitaminosis D in glycogen storage disease type I

- Summary
- Subjects
- Metrics

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.

Related Organizations

Duke University
United States
Duke Medical Center
United States

Keywords

Adult, Male, Adolescent, Glycogen Storage Disease Type I, Middle Aged, Vitamin D Deficiency, Hypoglycemia, Child, Preschool, Humans, Female, Child

Impact byBIP!

	citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	13
	popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.	Average
	influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	Average
	impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.	Average