Essential fructosuria (Q86974)
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Fructosuria is generally asymptomatic. It is caused by a deficiency in hepatic fructokinase, an enzyme involved in the catabolism of fructose. This anomaly leads to abnormally elevated levels of fructose in the blood after ingestion of fructose, sucrose or sorbitol. This excess fructose is then excreted in the urine. The mode of transmission is autosomal recessive.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1362211287 |
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| English | Essential fructosuria |
Fructosuria is generally asymptomatic. It is caused by a deficiency in hepatic fructokinase, an enzyme involved in the catabolism of fructose. This anomaly leads to abnormally elevated levels of fructose in the blood after ingestion of fructose, sucrose or sorbitol. This excess fructose is then excreted in the urine. The mode of transmission is autosomal recessive. |
