Metabolism Unit, Sami Ulus Children Hospital, Babur cad. No: 44, 06080 Altındağ, Ankara, Turkey.
Institute of Child Health, Metabolism Unit, Hacettepe University, Ankara, Turkey.
Metab Brain Dis. 2019 Oct;34(5):1487-1491. doi: 10.1007/s11011-019-00455-8. Epub 2019 Jul 5.
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.
果糖-1,6-二磷酸酶（FBPase）缺乏症是一种常染色体隐性遗传的糖异生先天性错误。我们旨在研究 10 名土耳其果糖-1,6-二磷酸酶缺乏症患者的临床和生化发现及分子遗传学数据。本研究纳入了 2013 年至 2019 年在单一中心诊断为果糖-1,6-二磷酸酶缺乏症的 10 名土耳其患者。回顾性收集了他们的临床和实验室数据。所有患者均因感染、饥饿等分解代谢应激状态，极少数因果糖摄入后入住重症监护病房。正确诊断和治疗后预后良好。FBP1 基因的分子分析显示 8 名患者存在纯合子外显子 2 缺失，1 名患者存在新的纯合子 c.910_911dupTT 突变，1 名患者存在纯合子 IVS5 + 1G > A 剪接突变。外显子 2 缺失（以前称为外显子 1）是土耳其果糖-1,6-二磷酸酶缺乏症患者最常见的突变。
