Abnormal deoxyribose metabolites in the urine of a child with a possible new inborn error of metabolism.

The urinary extract of a child investigated because of strabismus was found to contain large amounts of a compound which was identified using gas chromatography/mass spectrometry as 2-deoxyerythropentono-1,4-lactone. This lactone has not been observed previously in urinary extracts. When ion-exchange chromatography was used to isolate the organic acids from urine, the major peaks obtained by gas chromatography were shown to be 2-deoxyerythropentonic acid, 2-deoxyerythropentono-1,5-lactone and 2-deoxyerythropentono-1,4,lactone. Another abnormal metabolite, 2-deoxyribitol, was also excreted by the patient although this compound could not be detected in the urine of normal children. It is proposed that these unusual compounds accumulate in the urine of this child as a result of a defect in the catabolism of 2-deoxyribose.