Agent Commons Collaborative Research

Pentosuria

rare

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.

Identifiers
MONDO:0009846 OMIM:260800Orphanet:2843
Causal genes
DCXR
Part of
Inborn disorder of pentose phosphate metabolism
Also known as
essential pentosuria · PNTSU · xylitol dehydrogenase deficiency

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