Pentosuria

Pentosuria is a rare genetic disorder characterized by the excessive excretion of a pentose sugar called L-xylulose in the urine. It is a benign condition and does not cause any harmful effects to the body. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the condition.

Causes

Pentosuria is caused by a deficiency in the enzyme L-xylulose reductase, which is responsible for the metabolism of L-xylulose. This deficiency results in the accumulation of L-xylulose in the body, which is then excreted in the urine. The disorder is caused by mutations in the DCXR gene, which provides instructions for making the L-xylulose reductase enzyme.

Symptoms

The primary symptom of pentosuria is the presence of L-xylulose in the urine, which can be detected through urine tests. However, this symptom is often asymptomatic and does not cause any discomfort or health problems. As such, many individuals with pentosuria may not be aware that they have the condition.

Diagnosis

Pentosuria is diagnosed through urine tests that detect the presence of L-xylulose. Genetic testing can also be used to identify mutations in the DCXR gene.

Treatment

As pentosuria is a benign condition, no treatment is typically necessary. Individuals with the condition are advised to maintain a healthy lifestyle and monitor their health regularly.

See also

• Genetic disorder
• Autosomal recessive inheritance
• Urine test
• Genetic testing

References

Pentosuria Resources
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