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Abnormal deoxyribose metabolites in the urine of a child with a possible new inborn error of metabolism
Author(s) -
Truscott Roger J. W.,
Halpern Berthold,
Hammond Judy,
Hunt Sue,
Cotton Richard G. H.,
Haan Eric A.,
Danks David M.
Publication year - 1979
Publication title -
biomedical mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.475
H-Index - 121
eISSN - 1096-9888
pISSN - 0306-042X
DOI - 10.1002/bms.1200061010
Subject(s) - urine , deoxyribose , chemistry , metabolite , chromatography , lactone , gas chromatography , metabolism , catabolism , urinary system , gas chromatography–mass spectrometry , mass spectrometry , biochemistry , nucleic acid , endocrinology , medicine
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.