Essential PentosuriaSymptoms, Doctors, Treatments, Advances & More
Learn About 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.
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.
Alpha Health Associates
Prashant Pandya is a primary care provider, practicing in Internal Medicine in Millburn, New Jersey. Dr. Pandya is rated as an Advanced provider by MediFind in the treatment of Essential Pentosuria. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Hypothyroidism, Obesity in Children, and Type 2 Diabetes (T2D). Dr. Pandya is board certified in American Board Of Internal Medicine. Dr. Pandya is currently accepting new patients.
Martin General Hospital
Tammy Donoway is a primary care provider, practicing in Family Medicine in Williamston, North Carolina. Dr. Donoway is rated as a Distinguished provider by MediFind in the treatment of Essential Pentosuria. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Essential Pentosuria, Lactate Dehydrogenase Deficiency, Hyperglycerolemia, and Renal Glycosuria. Dr. Donoway is currently accepting new patients.
Henry Ford Glennan Primary Care-Oxford
Sheryl Wissman is a primary care provider, practicing in Internal Medicine in Oxford, Michigan. Dr. Wissman is rated as an Advanced provider by MediFind in the treatment of Essential Pentosuria. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Essential Pentosuria, Renal Glycosuria, Hyperglycerolemia, and Lactate Dehydrogenase Deficiency. Dr. Wissman is currently accepting new patients.
Published Date: January 01, 2015
Published By: National Institutes of Health