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Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in

Rihab M Salih1, Esraa A Mohammed, Amal M Alhashem

  • 1Department of Pediatrics, Medical Genetics and Metabolic Division, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail. rihab97@hotmail.com.

Saudi Medical Journal
|February 6, 2020
PubMed

Insights

Fructose-1,6-bisphosphatase deficiency is a key cause of hypoglycemia and lactic acidosis in children. Early molecular diagnostics are crucial for timely intervention and preventive strategies.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare metabolic disorder.
  • It leads to severe hypoglycemia and lactic acidosis, particularly in infants and children.

Observation:

  • A study of 7 Saudi patients with genetically confirmed FBPase deficiency was conducted.
  • Patients presented with recurrent hypoglycemia and severe metabolic acidosis, some from birth.
  • Diagnosis was delayed due to the need to exclude other metabolic disorders.

Findings:

  • All patients had homozygous variants in the FBP1 gene.
  • One patient exhibited a novel variant and speech delay, with otherwise normal development.
  • The mean diagnostic delay was over 3 years.

Implications:

  • FBPase deficiency should be considered in children with unexplained hypoglycemia and acidosis.
  • Early molecular genetic testing is essential for accurate diagnosis.
  • Prompt diagnosis facilitates targeted management and preventive strategies to improve outcomes.
Abstract

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