Gluconeogenesis defect presenting with resistant hyperglycemia and acidosis mimicking diabetic ketoacidosis

Pediatr Emerg Care. 2011 Dec;27(12):1180-1. doi: 10.1097/PEC.0b013e31823b412d.

Abstract

Fructose-1,6-diphosphatase (FDPase) enzyme deficiency is a rare inherited metabolic disease. Affected patients usually present with metabolic crisis including hypoglycemia, acidosis, ketonuria, and hyperuricemia. A previously healthy 8-month-old male infant presented with fever, vomiting, and hypoactivity. He had tachycardia, tachypnea, and a tendency to sleep. The patient had signs of severe dehydration and shock. Laboratory findings revealed significant lactic acidosis, hyperuricemia, hyperglycemia, elevated liver enzyme level, and hyperlipidemia. The urine analysis had evidence of glycosuria and ketonuria. Hyperuricemia, lactic acidemia, and hyperglycemia persisted despite insulin infusion, adequate hydration, and perfusion. Consequently, peritoneal dialysis was started. About 12 hours after dialysis, his metabolic derangements were normalized, and clinical status was improved dramatically. His metabolic disease workup was compatible with FDPase deficiency. Here, we described a metabolic attack of FDPase deficiency presented with hyperglycemia mimicking diabetic ketoacidosis.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / diagnosis*
  • Alanine Transaminase / blood
  • Aspartate Aminotransferases / blood
  • Dehydration / etiology
  • Diabetic Ketoacidosis / diagnosis*
  • Diagnosis, Differential
  • Fever / etiology
  • Fructose-1,6-Diphosphatase Deficiency / blood
  • Fructose-1,6-Diphosphatase Deficiency / complications
  • Fructose-1,6-Diphosphatase Deficiency / diagnosis*
  • Fructose-1,6-Diphosphatase Deficiency / diet therapy
  • Fructose-1,6-Diphosphatase Deficiency / urine
  • Gluconeogenesis
  • Glycosuria / etiology
  • Hepatomegaly / blood
  • Hepatomegaly / etiology
  • Humans
  • Hyperglycemia / diagnosis*
  • Hyperlipidemias / etiology
  • Hyperuricemia / etiology
  • Infant
  • Male
  • Peritoneal Dialysis
  • Shock, Septic / complications

Substances

  • Aspartate Aminotransferases
  • Alanine Transaminase