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.
Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected.
Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl and 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.
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.
Other Names for This Condition
- Essential benign pentosuria
- L-xylulose reductase deficiency
- Xylitol dehydrogenase deficiency
Additional Information & Resources
Genetic Testing Information
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
- Ebert B, Kisiela M, Maser E. Human DCXR - another 'moonlighting protein' involved in sugar metabolism, carbonyl detoxification, cell adhesion and male fertility? Biol Rev Camb Philos Soc. 2015 Feb;90(1):254-78. doi: 10.1111/brv.12108. Epub 2014 Apr 10. Review. Citation on PubMed
- Lane AB. On the nature of L-xylulose reductase deficiency in essential pentosuria. Biochem Genet. 1985 Feb;23(1-2):61-72. Citation on PubMed
- Lee SK, Son le T, Choi HJ, Ahnn J. Dicarbonyl/l-xylulose reductase (DCXR): The multifunctional pentosuria enzyme. Int J Biochem Cell Biol. 2013 Nov;45(11):2563-7. doi: 10.1016/j.biocel.2013.08.010. Epub 2013 Aug 27. Review. Citation on PubMed
- Nakagawa J, Ishikura S, Asami J, Isaji T, Usami N, Hara A, Sakurai T, Tsuritani K, Oda K, Takahashi M, Yoshimoto M, Otsuka N, Kitamura K. Molecular characterization of mammalian dicarbonyl/L-xylulose reductase and its localization in kidney. J Biol Chem. 2002 May 17;277(20):17883-91. Epub 2002 Mar 6. Citation on PubMed
- Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG. Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31. Citation on PubMed or Free article on PubMed Central