Clinical Chemistry 50: 1723-1724, 2004;
10.1373/clinchem.2004.038133
(Clinical Chemistry. 2004;50:1723-1724.)
© 2004 American Association for Clinical Chemistry, Inc.
Mass Spectrometry as a Platform for the Diagnosis of Lysosomal Disorders
Peter Clements
1 Women’s and Children’s Hospital, North Adelaide, South Australia, 5006, Australia
| The first 20% of the full text of this article appears below. |
There are more than 40 lysosomal disorders, and although individually rare, they are collectively a significant group of disorders with life-altering manifestations not only for patients but with equally devastating effects for their families (1). The cost of healthcare for an individual affected with one of these disorders is exceedingly high over an often shortened life span. The diseases are a result of the failure of one or more lysosomal enzymes to degrade the generally polymeric biomaterials that are brought into the organelle for digestion. In the case of the mucopolysaccharidoses, a single enzyme defect leads to a block in the sequential degradation of glycosaminoglycans, and the undigested fragments accumulate in the lysosomes, which become distended and gradually compromise cellular function. The symptoms organomegaly, skeletal deformity, and mental retardation result from this accumulation, and the latter two are generally irreversible in nature. Early intervention with therapies has therefore become the goal of laboratories involved in the diagnosis and treatment of these patients. For this to be possible, because so many of the symptoms that develop are irreversible, presymptomatic diagnosis is essential. . . . [Full Text of this Article]
Copyright © 2004 by the American Association for Clinical Chemistry.
