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Pentosuria

Disease 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.

ORPHA:2843

  • Synonym(s):
    • Essential pentosuria
    • Xylitol dehydrogenase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.8
  • OMIM: 260800
  • UMLS: C0268162
  • MeSH: C536652
  • GARD: 418
  • MedDRA: 10064170

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