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Clinical Chemistry 19: 770-773, 1973;
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Clinical Chemistry, Vol 19, 770-773, Copyright © 1973 by the American Association for Clinical Chemistry

Problems in the Laboratory Diagnosis of Alcaptonuria

Jiri Frohlich 1, George E. Price 1, and Donald J. Campbell 1

1 Division of Clinical Chemistry, Department of Pathology and Department of Medicine, University of British Columbia; and Vancouver General Hospital, Vancouver, B.C.

Two patients with urinary findings suggestive of alcaptonuria were observed. One was a two-year-old girl of Turkish descent, presenting with dark-stained diapers, black ear wax, and no other stated problem. The second was a 61-year-old North American Indian woman with long-standing rheumatoid arthritis, bluish sclerae, chronic renal failure, and dark urine. Diagnosis of alcaptonuria was confirmed in the first case by paper chromatographic identification of homogentisic acid in urine and ear wax; also a small amount of a substance with Rf similar to that of homogentisic acid was found in urine of the patient's mother and brother. Whether this implies possibilities for heterozygote detection requires further study. Gentisic acid, a phenolic acid metabolite of acetylsalicylic acid, was responsible for the dark color of the urine in the second patient. This latter finding has not been emphasized in this context, and may cause confusion when patients with arthritis and pigmentation are investigated for possible alcaptonuria.


Key Words: homogentisic acid • gentisic acid • inborn errors of metabolism • heterozygotes in alcaptonuria

Submitted on March 26, 1973
Accepted on April 25, 1973






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Copyright © 1973 by the American Association for Clinical Chemistry.