📂 Diseases
essential fructosuria — Definition
Esansiyel früktozüri / essential fructosuria
Essential fructose is a metabolic disease with autozomal resessive passage, which occurs as a result of the lack of fructose enzyme, which is responsible for fructose metabolism. Due to the lack of this enzyme, fructose can be normally phosphorous in the liver and is excreted in the blood with urine. The disease often does not lead to benign dilent and pronounced clinical symptom; but in some cases, mild liver growth or kidney tubular dysfunction can be seen. The diagnosis is put in the urine by detecting the presence of fructose and showing mutations in the fructose gene.
Frequently Asked Questions
❓ What is Esansiyel früktozüri?
Esansiyel früktozüri; essential fructose is a metabolic disease with autozomal resessive passage, which occurs as a result of the lack of fructose enzyme, which is responsible for fructose metabolism. Due to the lack of this enzyme, fructose can be normally phosphorous in the liver and is excreted in the blood with urine. The disease often does not lead to benign dilent and pronounced clinical symptom; but in some cases, mild liver growth or kidney tubular dysfunction can be seen. The diagnosis is put in the urine by detecting the presence of fructose and showing mutations in the fructose gene.
❓ What is essential fructosuria in Turkish?
The Turkish equivalent of "essential fructosuria" is Esansiyel früktozüri.
❓ Which medical field is Esansiyel früktozüri related to?
This term belongs to the Diseases category.