Hypovitaminosis D in glycogen storage disease type I

被引：11

作者：

Banugaria, Suhrad G. ^{[1
]}

Austin, Stephanie L. ^{[1
]}

Boney, Anne ^{[1
]}

Weber, Thomas J. ^{[2
]}

Kishnani, Priya S. ^{[1
]}

机构：

[1] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA

[2] Duke Univ, Med Ctr, Dept Med, Div Metab Endocrinol & Nutr, Durham, NC 27710 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2010年 / 99卷 / 04期

关键词：

Glycogen storage disease type I; Vitamin D; 25-Hydroxyvitamin-D; Bone mineral density; Osteoporosis; Osteopenia; BONE-MINERAL DENSITY; VITAMIN-D DEFICIENCY; CHILDREN; PREVALENCE; INFANTS; GROWTH; NEED;

D O I：

10.1016/j.ymgme.2009.12.012

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 1 patients. (C) 2009 Elsevier Inc. All rights reserved.

引用

页码：434 / 437

页数：4

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