Pentosuria

Pentosuria

Article
Diseases & Conditions
Congenital & Genetic Disorders
+1
Contributed byMaulik P. Purohit MD MPHApr 28, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • L-Xylulose Reductase Deficiency Disorder
  • L-Xylulosuria
  • Xylitol Dehydrogenase Deficiency Disorder

What is Pentosuria? (Definition/Background Information)

  • Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day
  • Pentosuria is benign and shows no symptoms. The sole biological feature is the constant excretion of L-xylulose in urine that may be mistaken with glycosuria
  • Transmission is autosomal recessive. It is due to mutations in the DCXR gene on chromosome 17 that codes for L-xylulose reductase (or L-xylitol dehydrogenase), an enzyme that catalyzes the conversion of 1-xylulose into xylitol
  • The condition occurs essentially in Ashkenazi Jews with an estimated incidence of the heterozygote mutation of 1/79

(Source: Pentosuria; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Pentosuria? (Age and Sex Distribution)

  • Pentosuria is a rare congenital disorder. Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected. However, a majority of the cases are recorded among the Ashkenazi Jews

What are the Risk Factors for Pentosuria? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Pentosuria can be inherited
  • The community of Ashkenazi Jews have a very high risk for this condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Pentosuria? (Etiology)

  • Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day
  • The transmission of the condition is autosomal recessive
  • Pentosuria is due to mutations in the DCXR gene on chromosome 17 that codes for L-xylulose reductase (or L-xylitol dehydrogenase), an enzyme that catalyzes the conversion of 1-xylulose into xylitol

(Source: Pentosuria; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

What are the Signs and Symptoms of Pentosuria?

The signs and symptoms of Pentosuria may include:

  • Abnormality of urine homeostasis
  • Excretion of 1 to 4 g of L-xylulose in urine per day
  • In general, the condition is benign and no symptoms may be observed

(Source: Pentosuria; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Pentosuria Diagnosed?

Pentosuria is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Pentosuria?

  • Typically, no complications of Pentosuria are noted
  • However, the condition may be mistakenly diagnosed as diabetes

How is Pentosuria Treated?

There is no cure for Pentosuria, since it is a genetic condition. But, no treatment is generally necessary, since significant symptoms are not noted.

How can Pentosuria be Prevented?

Currently, Pentosuria may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Pentosuria? (Outcomes/Resolutions)

The prognosis of Pentosuria is mostly good, since no significant symptoms are noted.

Additional and Relevant Useful Information for Pentosuria:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

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Maulik P. Purohit MD MPH picture
Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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