SULM – Schweizerische Union für Labormedizin | Union Suisse de Médecine de Laboratoire | Swiss Union of Laboratory Medicine

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I. Sebesta12 , O. Martincova2 , E. Hruba2

1Institute of Clinical Biochemistry and Laboratory Diagnostics, 2Institute of Inherited Metabolic Disorders,First Faculty of Medicine,Charles University,Prague,Czech Republic

Objective: Hypouricemia is defined as a reduction of serum urate levels to less than 2 mg/dl (119 umol/l). Primary hypouricemia is caused by several purine metabolic disorders including mutations in SLC22A12 gene encoding human urate transporter. Secondary causes in different disorders are related to proximal tubular damage, use of uricosuric drugs etc. Hypouricemia and urinary uric acid investigation are sometimes overlooked. Therefore we have set up the diagnostic guideline for differential diagnosis.Methods: Uric acid was quantified by specific enzymic method and red cell enzyme with urinary purine nucleosides were measured by methods adapted to HPLC (1).
Results: A proposed scheme for the investigation of unexplained hypouricemia is a follows.Estimation of: 1) excretion fraction of uric acid , 2) urinary xanthine, S-sulphocysteine, thiosulfate 3) measurement of (deoxy)guanosine,(deoxy)inosine in urine, in positive case performing assay of purine nucleoside phosphorylase in erythrocytes. The evaluation of the patient´s case history with attention to urolithiasis, seizures and immunodeficiency is needed. This flow chart allows to differentiate a) hereditary renal hypouricaemia, b) hereditary xanthinuria, c) molybdenum cofactor deficiency, d) purine nucleoside phosphorylase deficiency. Moreover, primary hyperuricemia can be excluded. Using this flow chart we have detected four new families of Czech origin with hereditary xanthinuria, one case of hereditary renal hypouricaemia and one patient with molybdenum cofactor deficiency from 3,200 serum and urine samples received during last three years. Conclusions: The exclusion of primary hypouricemia allows to search for the other causes. Available guideline will help for early and cost-effective diagnosis of purine disorders associated with hypouricaemia.

1.H.A.Simmonds et al. In :Hommes F,ed., Techniques in diagnostic human biochemical genetics. A laboratory manual. F.Hommes,ed., Wiley-Liss,1991:397-425.

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