Essential pentosuria

Synonyms: L-XYLULOSE REDUCTASE DEFICIENCY; L-XYLULOSURIA; Pentosuria; XYLITOL DEHYDROGENASE DEFICIENCY

Summary

Essential pentosuria is an inborn error of metabolism in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day. It is a benign condition that occurs principally in individuals of Ashkenazi Jewish descent (summary by Hiatt, 2001). [from OMIM]

Available tests

5 tests are in the database for this condition.

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Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

DCXR
10 tests
Also known as: DCR, HCR2, HCRII, KIDCR, P34H, PNTSU, SDR20C1, XR, DCXR
Summary: dicarbonyl and L-xylulose reductase

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the genitourinary system
- Elevated urine L-xylulose level
  Elevated urine L-xylulose level
  - MedGen UID: 1053105
  - Concept ID: CN378199
  - Finding: Finding
  Abnormality of the genitourinary system
  See: Feature record | Search on this feature

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