Pentosuria [Supplementary Concept]

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 introduced: August 25, 2010

MeSH Unique ID: C536652

Heading Mapped to:

• Carbohydrate Metabolism, Inborn Errors
• Sugar Alcohol Dehydrogenases/deficiency
• Xylulose

Entry Terms:

• L-Xylulose reductase deficiency
• L-Xylulosuria
• Xylitol dehydrogenase deficiency