出典:Wikipedia
出典:『Wikipedia』 (2010/12/04 18:18 UTC 版)
Essential fructosuria, also known as hepatic fructokinase deficiency or ketohexokinase deficiency, is a hereditary metabolic disorder caused by a deficiency in hepatic fructokinase, leading to fructose being excreted in the urine (-uria denotes "in the urine"). It is essentially a benign condition, as fructose cannot be broken down, so it is simply excreted in the urine. Inheritance is autosomal recessive.