摘要
To the Editor： Fructose 1,6-bisphosphatase （FBPase） deficiency is an autosomal recessive metabolic disease, which is characterized by episodic attacks of hypoglycemia, ketosis, and lactic acidosis triggered by long-term fasting or lever or plenty of a load of fructose, As we all know, mutations of the fructose-1,6-bisphosphatase 1 gene （FBP1） could lead to FBPase deficiency which will correspondingly cause an enzymatic block in the last steps of the gluconeogenesis. It is known to be often lethal during the neonatal period and infancy because of lack of storage of glycogen, however, there were also few reports of adult patients with this inherited disease. Here, we described a Chinese female adult with FBPase deficiency.
To the Editor： Fructose 1,6-bisphosphatase （FBPase） deficiency is an autosomal recessive metabolic disease, which is characterized by episodic attacks of hypoglycemia, ketosis, and lactic acidosis triggered by long-term fasting or lever or plenty of a load of fructose, As we all know, mutations of the fructose-1,6-bisphosphatase 1 gene （FBP1） could lead to FBPase deficiency which will correspondingly cause an enzymatic block in the last steps of the gluconeogenesis. It is known to be often lethal during the neonatal period and infancy because of lack of storage of glycogen, however, there were also few reports of adult patients with this inherited disease. Here, we described a Chinese female adult with FBPase deficiency.
