Homogentisic acid - urine

Last updated: Monday, 22, March, 2004

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Item Process
SpecimenRandom urine.
Method

Qualitative colour test, colorimetry, HPLC.

Reference Interval

Not detected.

Application

Diagnosis of alkaptonuria. Patients present with dark pigmentation of sclerae and ear cartilage, early osteoarthritis of hips (with darkly pigmented cartilage). Their urine contains a reducing substance that is not glucose and the urine characteristically darkens on standing.

Interpretation

An increased level is diagnostic of alkaptonuria.

Reference

Bory C et al. Clin Chim Acta 1990; 189: 7-11.