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Urinary Homogentisic Acid in Alkaptonuric and Healthy Children
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Anna V. Oláh
Published/Copyright:
June 1, 2005
Abstract
To detect and follow-up the metabolic status of patients with alkaptonuria (AKU), urinary homogentisic acid (HGA) was measured by gas chromatography. These results were close to values we obtained by colorimetric method (linearity: up to 700 mg/l, detection limit: 1 mg/l, within-run imprecision (CV): 1.2% at 100 mg/l HGA, 4.9% at 10 mg/l, between-run CV: 6.8% at 100 mg/l). To determine urinary reference ranges of HGA, 84 healthy children (age: 2months–18 years) were divided into five age groups. HGA and creatinine were measured in their morning urine. Statistical analysis proved that urinary HGA/creatinine ratio is age-dependent. The ratio is relatively high between 1 and 6 years of age, with large scatter (upper limit of reference ranges given as mean + 2 SD: 5.5–7.2 mg/mmol = 0.03–0.04 mmol/mmol creatinine), and it decreases with age. Approximately at the age of 7 years, HGA/creatinine ratio becomes constant, and later it is similar to the adult value (upper limit: 2.8 mg/mmol = 0.017 mmol/mmol creatinine). We monitored a patient during her 1–5th year of life, and her urinary HGA was 80–200 times higher than the upper limit of the age-matched reference ranges. The measurement of HGA supports the decision for starting restricted protein diet and is useful for the evaluation of the effectiveness of therapy.
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Published Online: 2005-06-01
Published in Print: 2003-03-24
Copyright © 2003 by Walter de Gruyter GmbH & Co. KG
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