Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders

Background: Early diagnosis of lysosomal storage disorders' (LSDs), before the onset of irreversible pathology, will be critical for maximum efficacy of many current and proposed therapies. To search for potential markers of LSDs, we measured saposins A, B, C, and D in patients with these disorders. Methods: Four time-delayed fluorescence immunoquantification assays were us ed to measure each of the saposins in plasma from 111 unaffected individual s and 334 LSD-affected individuals, representing 28 different disorders. Results: Saposin A was increased above the 95th centile of the control popu lation in 59% of LSD patients; saposins B, C, and D were increased in 25%, 61%, and 57%, respectively. Saposins were increased in patients from severa l LSD groups that in previous studies did not show an increase of lysosome- associated membrane protein-1 (LAMP-1). Conclusion: Saposins may be useful markers for LSDs when used in conjunctio n with LAMP-1. (C) 2000 American Association for Clinical Chemistry.