FBP1基因中一个新的纯合Alu元件插入导致的果糖-1,6-二磷酸酶缺乏症及诊断延迟。
Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis.
作者信息
Ramakrishna Somashekara Hosaagrahara, Patil Siddaramappa Jagdish, Jagadish Anusha Aladakatte, Sapare Anil Kumar, Sagar Hiremath, Kannan Subramanian
机构信息
Pediatrics Gastroenterology, Narayana Health City, Bangalore, Karnataka,India.
Medical Genetics, Mazumdar-Shaw Medical Center, Narayana Health City, No 258/A, Bommasandra Industrial Area, Anekal Taluk, Bangalore560099, Karnataka,India.
出版信息
J Pediatr Endocrinol Metab. 2017 May 24;30(6):703-706. doi: 10.1515/jpem-2017-0078.
Fructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygous Arthrobacter luteus (Alu) insertion in the FBP1 gene, reported for the first time.
果糖-1,6-二磷酸酶（FBPase）缺乏症是一种可治疗的常染色体隐性遗传代谢紊乱疾病。如果早期诊断，FBPase缺乏症预后良好。我们报告了一名9.5岁患有FBPase缺乏症女童的临床和生化检查结果。FBPase缺乏症是由FBP1基因中的纯合黄色节杆菌（Alu）插入引起的，此为首次报道。
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