Purpose: The main purpose of this review is to address some concerns regarding the accurate and timely diagnosis of lysosomal storage disorders (LSD).
Methods: Using their experience in diagnosing LSD in more than 2500 individuals, the authors highlight several diagnostic difficulties and solutions and review the latest methods for early diagnosis and treatment.
Results: While "classic" patients can be accurately diagnosed using relatively simple methods in an experienced laboratory, atypical patients require more detailed studies. With a few exceptions, almost all LSD can be diagnosed in leukocytes or plasma. Methods for screening all newborns without a family history of a LSD have been proposed, but such screening may require a large amount of effort for little gain.
Conclusions: With effective therapy becoming available for some LSD, early diagnosis is critically important. If the goal is to prevent serious complications related to the nervous and skeletal systems, earlier diagnosis is potentially advantageous. Accurate prognosis and assessing the need for aggressive therapy in newly diagnosed patients are problems that need further study.