title: Diagnosis of lysosomal storage disorders: current techniques and future directions.
abstract: Lysosomal storage disorders represent a group of over 45 distinct genetic diseases. The broad spectrum of clinical presentation of this group of disorders has led to the development of diagnostic protocols to facilitate their rapid and accurate diagnosis. However, with the development of new therapies, testing for many of these disorders now extends beyond diagnosis of affected individuals. The efficacy of many current and proposed therapies will rely heavily upon early detection and treatment prior to the onset of irreversible pathology. Newborn screening holds the promise of early detection. However, presymptomatic diagnosis raises a number of issues relating to patient management and treatment. Methods for prognoses and monitoring therapy in asymptomatic individuals will be required.
authors.affiliation: Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia, 5006 Australia. peter.meikle@adelaide.edu.au
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Meikle
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Fietz
authors.forename: John J
authors.initials: JJ
authors.lastname: Hopwood
mesh_terms: D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000628:therapy / Q000652:urine; D015997:Neonatal Screening / Q000379:methods / Q000639:trends; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012680:Sensitivity and Specificity