title: Hypovitaminosis D in glycogen storage disease type I.
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.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA. kishn001@mc.duke.edu
authors.forename: Suhrad G
authors.initials: SG
authors.lastname: Banugaria
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Austin
authors.forename: Anne
authors.initials: A
authors.lastname: Boney
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Weber
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000378:metabolism*; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D008297:Male; D008875:Middle Aged; D014808:Vitamin D Deficiency / Q000150:complications*