Fructose 1,6-Diphosphatase Deficiency Clinical Presentation

Updated: Apr 17, 2018
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Maria Descartes, MD  more...
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Presentation

History

Focus on symptoms of hypoglycemia induced by foods that contain fructose and by infant formulas. Symptoms of hypoglycemia include hunger, irritability, light-headedness, fatigue, and lethargy. Signs of hypoglycemia include seizures, loss of consciousness, trembling, and sympathetic signs such as tachycardia, hypertension, or miosis.

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Physical

Patients may only exhibit hepatomegaly during the metabolic crisis, which promptly resolves with administration of dextrose (ie, cessation of fasting).

Paksu et al described a metabolic attack of FDPase deficiency in an 8-month-old infant who presented with hyperglycemia that mimicked diabetic ketoacidosis. [4, 5]

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Causes

The gene encoding FDPase was reported in 1995, [6] and several mutations resulting in loss of function have subsequently been reported in American and Japanese patients. [7, 8, 9]

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