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.
Bassett Health Center Clinton
. Dr. Horth is rated as an Experienced provider by MediFind in the treatment of Essential Pentosuria. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Bronchitis, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Familial Hypertension.
Family Practice Of CentraState - East Windsor
Ronald Dubow is a primary care provider, practicing in Internal Medicine and Geriatrics in East Windsor, New Jersey. Dr. Dubow is rated as an Advanced provider by MediFind in the treatment of Essential Pentosuria. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Hyperglycerolemia, Essential Pentosuria, Lactate Dehydrogenase Deficiency, and Renal Glycosuria. Dr. Dubow is board certified in Certified Internal Medicine. Dr. Dubow is currently accepting new patients.
SSM Health Neurosciences
Maryann Werz is a Neurologist practicing medicine in Madison, Wisconsin. Dr. Werz is rated as an Advanced provider by MediFind in the treatment of Essential Pentosuria. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Memory Loss, Seizures, Partial Familial Epilepsy, and Partial Seizure. Dr. Werz is board certified in American Board Psychology & Neurology - Epilepsy , American Board Of Psy&Neuro/Clin Neurophysiology , American Board Of Psychiatry & Neurology/ Neurology , Drug Enforcement Administration , and Wisconsin Medical Examining Board.
Published Date: January 01, 2015
Published By: National Institutes of Health