domingo, 8 de febrero de 2015

Essential pentosuria - Genetics Home Reference

Essential pentosuria - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions

New on the MedlinePlus Metabolic Disorders page:
02/03/2015 11:30 PM EST

Source: National Library of Medicine - NIH

Essential pentosuria

What is essential pentosuria?

Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.

How common is essential pentosuria?

Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected.

What genes are related to essential pentosuria?

Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl/L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xylitol. This reaction is one step in a process by which the body can use sugars for energy.
DCXR gene mutations lead to the production of altered DCXR proteins that are quickly broken down. Without this protein, L-xylulose is not converted to xylitol, and the excess sugar is released in the urine.
While essential pentosuria is caused by genetic mutations, some people develop a non-inherited form of pentosuria if they eat excessive amounts of fruits high in L-xylulose or another pentose called L-arabinose. This form of the condition, which disappears if the diet is changed, is referred to as alimentary pentosuria. Studies show that some drugs can also cause a form of temporary pentosuria called drug-induced pentosuria. These non-inherited forms of the condition also do not cause any health problems.
Read more about the DCXR gene.

How do people inherit essential pentosuria?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of essential pentosuria?

These resources address the diagnosis or management of essential pentosuria and may include treatment providers.
You might also find information on the diagnosis or management of essential pentosuria inEducational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about essential pentosuria?

You may find the following resources about essential pentosuria helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for essential pentosuria?

  • essential benign pentosuria
  • L-xylulose reductase deficiency
  • L-xylulosuria
  • pentosuria
  • xylitol dehydrogenase deficiency
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about essential pentosuria?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding essential pentosuria?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (5 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook

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