MeSH Browser

MeSH Supplementary: Pentosuria
Unique ID: C536652
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536652
Entry Term(s): L-Xylulose reductase deficiency; L-Xylulosuria; Xylitol dehydrogenase deficiency
Registry Numbers: 0
Heading Mapped to: *Carbohydrate Metabolism, Inborn Errors; Sugar Alcohol Dehydrogenases / deficiency; Xylulose
Frequency: 33
Note: A benign hereditary condition characterized by the excretion of 1 to 4 grams of pentose L-xylulose in urine per day. It is caused by mutations in the DCXR gene and occurs primarily in Ashkenazi Jewish populations. OMIM: 260800
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Concept UI: M0531113
Registry Numbers: 0
Terms: Pentosuria Preferred Term
Term UI T740000
Date02/24/2009
LexicalTag NON
ThesaurusID; L-Xylulose reductase deficiency
Term UI T740003
Date02/24/2009
LexicalTag NON
ThesaurusID; L-Xylulosuria
Term UI T740001
Date02/24/2009
LexicalTag NON
ThesaurusID; Xylitol dehydrogenase deficiency
Term UI T740002
Date02/24/2009
LexicalTag NON
ThesaurusID

Pentosuria MeSH Supplementary Concept Data 2025