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 used to measure each of the saposins in plasma from 111 unaffected individuals and 334 LSD-affected individuals, representing 28 different disorders.


RESULTS
Saposin A was increased above the 95th centile of the control population in 59% of LSD patients; saposins B, C, and D were increased in 25%, 61%, and 57%, respectively. Saposins were increased in patients from several LSD groups that in previous studies did not show an increase of lysosome-associated membrane protein-1 (LAMP-1).


CONCLUSIONS
Saposins may be useful markers for LSDs when used in conjunction with LAMP-1.
Chang
M H
MH
Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia.
Bindloss
C A
CA
Grabowski
G A
GA
Qi
X
X
Winchester
B
B
Hopwood
J J
JJ
Meikle
P J
PJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000097:blood; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007118:Immunoassay; D007223:Infant; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000097:blood*; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins / Q000097:blood; D008875:Middle Aged; D012503:Saponins / Q000097:blood*; D012680:Sensitivity and Specificity
D015703:Antigens, CD; D015415:Biomarkers; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins; D012503:Saponins