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


Kilic M., Kasapkara C. S. , Yilmaz D. Y. , Ozguel R. K.

METABOLIC BRAIN DISEASE, cilt.34, ss.1487-1491, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 34 Konu: 5
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1007/s11011-019-00455-8
  • Dergi Adı: METABOLIC BRAIN DISEASE
  • Sayfa Sayıları: ss.1487-1491

Özet

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.