pentosuria
Findings
No curated finding names pentosuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009846), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentrationHPOHP:0011021
- Very frequent (80% to 99% of cases)
- Abnormal urine carbohydrate levelHPOHP:0031979
- Very frequent (80% to 99% of cases)
- Abnormal circulating carbohydrate concentrationHPOHP:0011013
- Frequent (30% to 79% of cases)
- Elevated urine L-xylulose levelHPOHP:0025742
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DCXRHGNC:18985
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: pentosuria
- Also called
- essential pentosuriaxylitol dehydrogenase deficiency