Integrative algorithms in the diagnostics of lysosomal storage diseases

Lysosomal storage disorders (LSDs) are a clinically heterogeneous group of more than 50 disorders which still represent a challenge in modern medicine. The efficacy of many current and proposed therapies relies heavily upon early detection and treatment prior to the onset of irreversible pathology. Although there are multiple paths and algorithms to a final diagnosis, the diagnostic strategy for LSDs still mostly relies on initial clinical suspicion followed by adequate specialist and laboratory management - a selective screening approach. Despite the fact that the technology of tandem mass spectrometry enables newborn screening, such screening is generally acceptable only for a population at high risk for a certain LSD. As diagnostic testing for these disorders may be difficult, communication between the clinician who has established clinical suspicion and laboratory personnel will help complete this process.