Progress of fructose-1, 6-bisphosphatase deficiency
10.3760/cma.j.issn.1673-4408.2017.08.006
- VernacularTitle:果糖-1,6-二磷酸酶缺乏症诊疗进展
- Author:
Rui KOU
- Keywords:
Fructose-1,6-bisphosphatase;
Hypoglycemia;
Acidosis;
Gene;
Inherited metabolic disease
- From:
International Journal of Pediatrics
2017;44(8):535-538
- CountryChina
- Language:Chinese
-
Abstract:
Fructose-1,6-bisphosphatase(FBPase) deficiency is a rare inherited metabolic disease,which is an autosomal recessive metabolic disorder.Affected patients usually present with metabolic crisis including severe hypoglycemia and metabolic acidosis.Each attack occurred with a similar sequence.The triggering factors are removed and then clinical status is improved dramatically.As patients are usually symptomless in the plateau stage,it is often misdiagnosed.Metabolite assay in blood and urine is very useful for the diagnosis of FBPase deficiency.FBPase is a key enzyme in gluconeogenesis.Deficiency of FBPase impairs the formation of glucose from all precursors.FBP1 gene mutation contributes to the disease.More than 30 mutation types have been reported.There is no specific treatment.Early diagnosis and appropriate life-style can prevent repetitive metabolic derangements,improving life quality of these children and ensuring successful pregnancy.
