pentosuria

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.

Signs and symptoms

• Elevated urine L-xylulose level

Also known as: L-xylulose reductase deficiency; L-xylulosuria; PNTSU; essential pentosuria; xylitol dehydrogenase deficiency