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Roth, Christian

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 / 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

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Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency

Dania Takagi1 / Josef Ben-Ari1 / Dan Nemet1 / Avraham Zeharia2 / 1

1Pediatric Department, Meir Medical Center, Sackler School of Medicine, Tel-Aviv University, Kfar-Saba, Israel

2Day Hospitalization Unit, Schneider Children’s Medical Center of Israel, Sackler School of Medicine, Tel-Aviv University, PethaTikva, Israel

Corresponding author: Alon Eliakim, MD, Pediatric Department, Meir Medical Center, Sackler School of Medicine, Tel-Aviv University, Kfar-Saba, Israel, Phone: +97297471596, Fax: +97297471303

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 26, Issue 7-8, Pages 761–763, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0119, June 2012

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A 14-month-old female infant presented with recurrent episodes of acute gastroenteritis accompanied by severe metabolic acidosis and hypoglycemia. Physical examination showed hepatomegaly. Laboratory evaluation revealed elevated hepatic enzymes, prolonged prothrombin time, hyperuricemia, and extremely elevated lactate and alanine levels. Glucagon injection during hypoglycemia resulted in a further decrease of blood glucose. She was treated with glucose-containing intravenous fluids, with rapid improvement and normalization of her blood pH and glucose levels. Hormonal assessment during two episodes of hypoglycemia indicated growth hormone (GH) deficiency. However, as isolated GH deficiency could not explain all other concomitant features, such as severe lactic acidosis, hepatomegaly, impaired liver function, and hyperuricemia, the possibility of a combined defect was suggested. Further lymphocytic enzymatic investigation revealed fructose-1,6-diphosphatase deficiency and molecular genetic analysis demonstrated frame shift mutation in the FBP1 gene. This enzyme deficiency causes a rare metabolic disorder not previously described in combination with GH deficiency.

Keywords: fructose diphosphatase; growth hormone; hypoglycemia; infant

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