Systematic approach to the diagnosis of lysosomal storage disorders

Disorders that arise as a result of lysosomal dysfunction represent some of the most challenging diagnostic problems in medicine. Not only are these disorders infrequently seen, but they may also present with signs and symptoms that mimic perinatal injury, food intolerance, or the sequellae of neonatal infection. Misidentification can lead to significant delay in diagnosis. Ironically, as the prevailing economic climate places increasing time constraints on practicing physicians, medical research is providing treatment strategies and management techniques that are most effective if applied early in the course of the disease. Most lysosomal storage disorders can now be definitively diagnosed once the signs are recognized. In many cases the benefits of early diagnosis, enlightened management, and appropriate referral are considerable. The aim of this paper is to demystify this elusive class of diseases, to promote clinical vigilance in their detection, and to provide a systematic approach to diagnosis when clinical suspicion is aroused.