Inborn Errors of Metabolism Complicated by Urolithiasis — Examples from Purine Metabolism

Abstract

Everyone is familiar with inborn errors of metabolism and most physicians realize that inborn errors do occur in their particular speciality. However, they regard these as “rarities”, not likely to be encountered in their own clinical experience. This in turn leads to a general lack of knowledge as well as curiosity, diagnostic vigilance and clinical screening for these abnormalities. To quote from another clinical field, only a minority of cardiologists is aware that the incidence of familial hypercholesterolemia is nearly 1% and that this inborn error accounts for more than 5% of all coronary heart attacks that occur before the age of sixty. In urology the situation is probably similar; there may be more inborn errors causing urolithiasis than we think today. The problems are present but experience and initiative to attack them may be lacking.