Oznaczanie stężenia kwasu moczowego jako metoda przesiewowa w kierunku niektórych wad metabolizmu puryn

Inborn errors of purine metabolism (IEMs) have a wide spectrum of clinical presentations. They can affect any system including neurological, immunological, haematological and nephrological and they may present at any age. Broad symptomatology means that there is not one clinical specialty dealing with these defects. Clinically, these defects are not easily recognised, because of non-specific symptoms. Therefore, the assistance of a laboratory is indispensible. In purine metabolism uric acid is the end product of biosynthesis de novo, salvage and degradation. Therefore measurement of uric acid will lead to an indication for several purine defects, but certainly not all. This review describes uric acid changes in plasma and urine in inborn errors of purine metabolism.