Details of Disease

General Information of Disease (ID: DISB4DRV)

Disease Name Pentosuria
Synonyms L-Xylulosuria; PNTSU; L-xylulose reductase deficiency; xylitol dehydrogenase deficiency; essential pentosuria; pentosuria
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.
Disease Hierarchy
DISR5M3F: Inborn disorder of pentose phosphate metabolism
DISB4DRV: Pentosuria
Disease Identifiers
MONDO ID
MONDO_0009846
MESH ID
C536652
UMLS CUI
C0268162
OMIM ID
260800
MedGen ID
78646
Orphanet ID
2843
SNOMED CT ID
190764000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
DCXR DE3FEV8 Supportive Autosomal recessive [1]
DCXR DE3FEV8 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCXR OTYVXRXB Supportive Autosomal recessive [1]
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References

1 Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31.
2 Diacetyl/l-xylulose reductase mediates chemical redox cycling in lung epithelial cells. Chem Res Toxicol. 2017 Jul 17;30(7):1406-1418.