Pentosuria

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.

Also known as essential pentosuria, pentosuria, xylitol dehydrogenase deficiency — per MONDO

Also identified as

• DOID 0111258 per MONDO
• ICD9 271.8 per MONDO
• MESH C536652 per MONDO
• OMIM 260800 per MONDO
• Orphanet 2843 per MONDO
• SCTID 190764000 per MONDO
• UMLS C0268162 per MONDO