Journal of Pediatric Endocrinology and Metabolism
Editor-in-Chief: Kiess, Wieland
Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma
Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi
IMPACT FACTOR 2015: 0.912
SCImago Journal Rank (SJR) 2015: 0.493
Source Normalized Impact per Paper (SNIP) 2015: 0.600
Impact per Publication (IPP) 2015: 0.955
Obesity and Reversed Growth Retardation in a Child with Type Ia Glycogen Storage Disease
1Division of Pediatric Gastroenterology and Nutrition, Johns Hopkins University School of Medicine, Baltimore, Maryland, West Virginia, USA
2Robert C. Byrd Health Sciences Center, West Virginia University School of Medicine, Department of Pediatrics, West Virginia, USA
3Pathology, Morgantown, West Virginia, USA
Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 23, Issue 5, Pages 507–512, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem.2010.083, September 2010
- Published Online:
Type Ia Glycogen storage disease is an autosomal recessive hepatic metabolic disease due to a lack of glucose-6-phosphatase (G-6-Pase) activity presenting with growth retardation, lactic acidosis, fasting hypoglycemia with hypoinsulinemia, hyperuricemia, hepatomegaly, and hepatic adenoma with a risk of malignancy. The gene that encodes G-6-Pase was mapped to 17q21. There are some genotype-phenotype correlations. We report a case with delF327 mutation which is devoid of G-6-Pase activity; however clinical presentation in this case differs somewhat. Although correction of hypoglycemia and lactic acidosis with nocturnal intragastric feeding and uncooked starch therapy improves growth failure, mean height of the patients is often less than the target. Normal height and obesity in this case with hepatic steatosis and low hepatic glycogen storage requires clinical re-evaluation since there are some overlapping phenotypes between type Ia GSD and metabolic syndrome. The phenomenon may be related to insulin resistance as a consequence of early aggressive nutrition therapy with frequent low glycemic index meals.
Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.