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 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.
Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected.
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.
Published Date: January 01, 2015Published By: National Institutes of Health
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