• Biology, Medicine
  • Published in
    Beijing da xue xue bao. Yi…

[Genetic diagnosis of fructose-1, 6-bisphosphatase deficiency: a case report].

  title={[Genetic diagnosis of fructose-1, 6-bisphosphatase deficiency: a case report].},
  author={Ke Xu and Xue-qin Liu and Chun-yu Zhang and Ying Wang and Xing Li and Ye Wu and Yan-ling Yang and Hhu-jie Xiao},
  journal={Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences},
  volume={46 5},
OBJECTIVE To report the first case of fructose-1,6-bisphosphatase (FBPase) deficiency diagnosed by genetic sequencing in China, and to improve the cognition of this rare disease. METHODS The clinical and laboratory characteristics of FBPase deficiency were reviewed, and the findings of direct sequencing of genomic DNA described, and published literature on FBPase deficiency reviewed. RESULTS A 23-month-old boy was repeatedly admitted for 5 times with recurrent onset of lethargy and… CONTINUE READING