Pentosuria
Pentosuria
Pentosuria (pronounced pen-to-su-ri-a) is a rare genetic disorder characterized by the excessive excretion of a pentose sugar, typically L-xylulose, in the urine.
Etymology
The term "Pentosuria" is derived from the Greek words "pente" meaning five and "ouron" meaning urine. This refers to the five carbon sugar, pentose, that is found in the urine of individuals with this condition.
Definition
Pentosuria is a condition in which a person's urine contains a large amount of pentose sugars, particularly L-xylulose. This is due to a deficiency in the enzyme L-xylulose reductase, which is responsible for the metabolism of L-xylulose in the body. As a result, this sugar accumulates and is excreted in the urine.
Symptoms
The primary symptom of Pentosuria is the presence of pentose sugars in the urine. This is typically detected through a urine test. Other symptoms may include frequent urination and increased thirst. However, many individuals with Pentosuria do not experience any symptoms and the condition is often discovered incidentally during routine urine tests.
Related Terms
- Pentose: A type of sugar that contains five carbon atoms.
- L-xylulose: A type of pentose sugar that is often found in high levels in the urine of individuals with Pentosuria.
- L-xylulose reductase: An enzyme that is responsible for the metabolism of L-xylulose. A deficiency in this enzyme leads to Pentosuria.
- Genetic disorder: A disease that is caused by an abnormality in an individual's DNA.
See Also
External links
- Medical encyclopedia article on Pentosuria
- Wikipedia's article - Pentosuria
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