Fructosuria
Fructosuria
Fructosuria, pronounced as /frʌk.toʊˈsʊər.i.ə/, is a rare genetic disorder that is characterized by the inability of the body to process fructose, a type of sugar, properly. The term is derived from the Latin words 'fructus' meaning 'fruit' and 'uria' meaning 'urine', indicating the presence of fructose in urine.
Definition
Fructosuria is a metabolic disorder that results from a deficiency of the enzyme fructokinase. This enzyme is responsible for the conversion of fructose to fructose-1-phosphate in the liver, a crucial step in the metabolism of fructose. The deficiency of this enzyme leads to an accumulation of fructose in the blood and urine.
Symptoms
The symptoms of fructosuria are often mild and may include polyuria (excessive urination), polydipsia (excessive thirst), and a sweet-smelling urine due to the presence of fructose. However, unlike hereditary fructose intolerance, fructosuria does not cause severe liver or kidney damage.
Causes
Fructosuria is caused by a mutation in the KHK gene that provides instructions for making the enzyme fructokinase. This condition is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of fructosuria is typically made through a urine test that detects the presence of fructose. Genetic testing can also be performed to confirm the diagnosis and identify the specific mutation in the KHK gene.
Treatment
There is no specific treatment for fructosuria. Management of the condition primarily involves a fructose-restricted diet to prevent the accumulation of fructose in the body.
See Also
External links
- Medical encyclopedia article on Fructosuria
- Wikipedia's article - Fructosuria
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