Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency

  • Mustafa KılıçEmail author
  • Çiğdem Seher Kasapkara
  • Didem Yücel Yılmaz
  • Rıza Köksal Özgül
Original Article


Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive inborn error of gluconeogenesis. We aimed to investigate clinical and biochemical findings and molecular genetic data in ten Turkish patients with fructose-1,6-bisphosphatase deficiency. Ten Turkish patients who were diagnosed with fructose-1,6-biphosphatase deficiency in a single center from 2013 to 2019 were included in this study. Their clinical and laboratory data were collected retrospectively. All patients were hospitalised in intensive care unit mostly after catabolic stress conditions such as infections, starvation and rarely fructose consumption. Prognosis was good after correct diagnosis and treatment. Molecular analyses of FBP1 gene revealed a homozygous exon 2 deletion in eight patients, a novel homozygous c.910_911dupTT mutation in one patient and a homozygous IVS5 + 1G > A splicing mutation in one patient. Exon 2 deletion (previously termed exon 1) was found to be the most common mutation in Turkish fructose-1,6-biphosphatase deficiency patients.


Fructose-1,6-bisphosphatase deficiency FBP1 gene Fructose Hypoglycemia Coma Lactic acidosis 



We sincerely thank the family of the patient for their participation, after informed consent.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Mustafa Kılıç
    • 1
    Email author
  • Çiğdem Seher Kasapkara
    • 1
  • Didem Yücel Yılmaz
    • 2
  • Rıza Köksal Özgül
    • 2
  1. 1.Metabolism UnitSami Ulus Children HospitalAnkaraTurkey
  2. 2.Institute of Child Health, Metabolism UnitHacettepe UniversityAnkaraTurkey

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