Pentosuria

Orpha code: 2843OMIM code: 260800

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 data
Classification

Disease

Synonyms
Essential pentosuria
Niedobór dehydrogenazy ksylitolu
Pentozuria
Xylitol dehydrogenase deficiency
ORPHA code
2843
OMIM code
260800
ICD10 code
E74.8
ICD11 code
5C51.0

No additional description.

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