Pentosuria

From WikiMD's Wellnesspedia

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]


Pentosuria Resources

Find a healthcare provider anywhere in the world quickly and easily!

Wiki.png

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD


Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.


Contributors: Prab R. Tumpati, MD