Pentosuria
Description
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.
Clinical Features
Phenotypes and symptoms related to Pentosuria
- Abnormality of urine homeostasis
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Pentosuria Is also known as xylitol dehydrogenase deficiency, l-xylulosuria, l-xylulose reductase deficiency, essential pentosuria.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Pentosuria Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Pentosuria (sequence analysis of DCXR gene).
By CGC Genetics (Portugal).
DCXR
Specificity
100 %
Genes
100 % |
 Pentosuria.
By Centogene AG - the Rare Disease Company (Germany).
DCXR
Specificity
100 %
Genes
100 % |
 DCXR.
By Fulgent Genetics Fulgent Genetics (United States).
DCXR
Specificity
100 %
Genes
100 % |
You can get up to -5 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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