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Gluconeogenesis defect presenting with resistant hyperglycemia and acidosis mimicking diabetic ketoacidosis

Muhammet Şükrü Paksu1, Gokhan Kalkan, Nazik Asilioglu

  • 1Department of Pediatrics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey. sukrupaksu@yahoo.com

Pediatric Emergency Care
|December 14, 2011
PubMed

Insights

Fructose-1,6-diphosphatase deficiency, a rare metabolic disorder, can cause severe illness. This case highlights a metabolic attack presenting with hyperglycemia, mimicking diabetic ketoacidosis, successfully treated with peritoneal dialysis.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Fructose-1,6-diphosphatase (FDPase) deficiency is a rare inherited metabolic disorder.
  • Patients typically experience metabolic crises like hypoglycemia, acidosis, ketonuria, and hyperuricemia.

Observation:

  • An 8-month-old infant presented with fever, vomiting, hypoactivity, dehydration, and shock.
  • Laboratory results showed lactic acidosis, hyperuricemia, hyperglycemia, elevated liver enzymes, and hyperlipidemia.
  • Urine analysis indicated glycosuria and ketonuria.

Findings:

  • Metabolic derangements, including hyperglycemia, persisted despite standard treatments like insulin infusion and hydration.
  • Peritoneal dialysis was initiated and led to rapid normalization of metabolic status and clinical improvement.
  • The patient's condition was diagnosed as FDPase deficiency.

Implications:

  • This case underscores that FDPase deficiency can manifest with hyperglycemia, mimicking diabetic ketoacidosis.
  • Early recognition and intervention, including dialysis, are crucial for managing metabolic crises in FDPase deficiency.
  • Highlighting atypical presentations of rare metabolic diseases is vital for accurate diagnosis and effective patient care.

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