Essential fructosuria (Q86974): Difference between revisions
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A fructosúria é geralmente assintomática. É causada por uma deficiência da frutoquinase hepática, uma enzima envolvida no catabolismo da frutose. Esta anomalia leva a níveis elevados de frutose plasmática após a ingestão de frutose, sucrose ou sorbitol. Este excesso de frutose é excretado na urina. A forma de transmissão é autossômica recessiva. | |||
| description / en | description / en | ||
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. | |||
Revision as of 12:32, 15 August 2026
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 |
|---|---|---|---|
| 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. |
