The Lysosomal Diseases Testing Laboratory: A review of the past 47 years
Open Access
- 4 April 2020
- journal article
- review article
- Published by Wiley
- Vol. 54 (1), 61-67
- https://doi.org/10.1002/jmd2.12117
Abstract
Lysosomal disorders are diseases that involve mutations in genes responsible for the coding of lysosomal enzymes, transport proteins, activator proteins and protein processing enzymes. These defects lead to the storage of specific metabolites within lysosomes resulting in a great variety of clinical features depending on the tissues with the storage, the storage products and the extent of the storage. The methods for rapidly diagnosing patients started in the late 1960's when the enzyme defects were identified eliminating the need for tissue biopsies. The first requests for diagnostic help in this laboratory came in 1973. In that year, patients with Krabbe disease and Niemann-Pick type A were diagnosed. Since that time samples from about 62 000 individuals have been received for diagnostic studies, and 4900 diagnoses have been made. The largest number of diagnosed individuals had metachromatic leukodystrophy and Krabbe disease because of our research interest in leukodystrophies. A number of new disorders were identified and the primary defects in other disorders were clarified. With new methods for diagnosis, including newborn screening, molecular analysis, microarrays, there is still a need for biochemical confirmation before treatment is considered. With new treatments, including gene therapy, stem cell transplantation, enzyme replacement used alone or in combination becoming more available, the need for rapid, accurate diagnosis is critical.Keywords
This publication has 34 references indexed in Scilit:
- Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disordersClinica Chimica Acta; International Journal of Clinical Chemistry, 2012
- Adult and infantile Gaucher disease in one family: Mutational studies and clinical updateThe Journal of Pediatrics, 1994
- Galactocerebrosidase from human urine: Purification and partial characterizationBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1993
- Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophyBiochemical and Biophysical Research Communications, 1990
- Human β-Mannosidase DeficiencyThe New England Journal of Medicine, 1986
- Molecular cloning of the sphingolipid activator protein — 1 (SAP - 1), the sulfatide sulfatase activatorBiochemical and Biophysical Research Communications, 1986
- Acute neuronopathic (infantile) and chronic nonneuronopathic (adult) Gaucher disease in full siblingsThe Journal of Pediatrics, 1982
- Genetic heterogeneity in GM1-gangliosidosisNature, 1975
- BETA-GALACTOSIDASE DEFICIENCY IN YOUNG ADULTSThe Lancet, 1974
- Generalized gangliosidosisThe Journal of Pediatrics, 1969