Term Name:	pentosuria
Synonyms:	essential pentosuria, L-xylulose reductase deficiency, L-xylulosuria, PNTSU, xylitol dehydrogenase deficiency
Definition:	An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.
Ontology:	Human Disease [DOID:0111258]   ( DOID:0111258 )