Pentosuria is a condition in which the pentose sugar L-xylulose appears in the urine in unusually high concentrations. It was characterized as an inborn error of carbohydrate metabolism in 1908 and is a component of Garrod's tetrad. It is associated with a deficiency of L-xylulose reductase, an enzyme needed for xylitol metabolism. Because L-xylulose is a reducing sugar, it can give a false indication of diabetes, although glucose metabolism is normal in people with pentosuria and they are not diabetic. Three forms are described: essential pentosuria, alimentary pentosuria acquired through fruits high in pentose, and drug-induced pentosuria. The defect is described as harmless and needing no cure.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Pentosuria (Wikipedia)
Lead, first paragraph
It was characterized as an inborn error of carbohydrate metabolism in 1908.
lead sentence 1
Pentosuria, a component of Garrod’s tetrad, is a condition where the sugar L-xylulose, a pentose, presents in the urine in unusually high concentrations.
Lead
Pentosuria, a component of Garrod’s tetrad, is a condition where the sugar L-xylulose, a pentose, presents in the urine in unusually high concentrations.
View the Source2. Orphanet (INSERM): Orphanet: Pentosuria (ORPHA:2843)
Orphanet (INSERM)DisorderGeneAssociationQuote, DisorderGeneAssociation
"DisorderGeneAssociationType": "Disease-causing germline mutation(s) in"
Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.