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

Dania Takagi, Josef Ben-Ari, Dan Nemet, Avraham Zeharia, Alon Eliakim

Research output: Contribution to journalArticlepeer-review

Abstract

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 glucosecontaining 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 defi ciency and molecular genetic analysis demonstrated frame shift mutation in the FBP1 gene. This enzyme defi ciency causes a rare metabolic disorder not previously described in combination with GH deficiency.

Original languageEnglish
Pages (from-to)761-763
Number of pages3
JournalJournal of Pediatric Endocrinology and Metabolism
Volume26
Issue number7-8
DOIs
StatePublished - Aug 2013

Keywords

  • Fructose diphosphatase
  • Growth hormone
  • Hypoglycemia
  • Infant

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