Urolithiasis in an infant with propionic acidemia: Answer

Abstract

1. The X-ray diffraction analysis demonstrated pure ammonium acid urate (AAU) calculus. 2. A pure AAU stone is a rather rare diagnosis in childhood; the actual etiology and pathophysiology of AAU stones are still not completely defined. We believe that a combination of dehydration episodes, presence of a chronic acidotic state, and intake of a low-protein diet due to propionic acidemia contributed to the development of AAU nephrolithiasis in our patient. 3. We think that these two entities are most probably related to each other rather than occurring coincidentally.