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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2843
Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
The condition occurs essentially in Ashkenazi Jews with an estimated incidence of the heterozygote mutation of 1/79.
Pentosuria is benign and shows no symptoms. The sole biological feature is the constant excretion of L-xylulose in the urine that may be mistaken with glycosuria.
It is due to mutations in the DCXR gene on chromosome 17 that codes for L-xylulose reductase (or L-xylitol dehydrogenase), an enzyme that catalyzes the conversion of 1-xylulose into xylitol.
Transmission is autosomal recessive.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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