HPLC analysis of urinary sulfatide: an aid in the diagnosis of metachromatic leukodystrophy.
Metachromatic leukodystrophy (MLD) presents as six separate variant forms, four allelic and two non-allelic. It is diagnosed in the laboratory by a decrease in the fibroblast or leukocyte arylsulfatase A activity, generally against an artificial substrate. Since residual enzyme activity is not always an indicator of presence or absence of disease, it may be helpful to supplement this information with that of the presence or absence of sulfatide storage in the body. We have improved the HPLC analysis of sulfatide by the use of a sulfated internal standard, sulfatoxymonoalkylmonoacylgalactosylglycerol. Normal urines contain approximately 0 to 0.2 nmol sulfatide/mg creatinine, whereas MLD urines may contain 5 to 7.5 nmol/mg. There is no increase in plasma sulfatide compared to controls in the age group of MLD patients which we studied (up to 4 years).
Strasberg
P M
PM
Warren
I
I
Skomorowski
M A
MA
Lowden
J A
JA
D002553:Cerebroside-Sulfatase / Q000097:blood; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D006017:Glycolipids / Q000032:analysis; D006028:Glycosphingolipids / Q000652:urine; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000652:urine*; D013433:Sulfoglycosphingolipids / Q000652:urine*
D006017:Glycolipids; D006028:Glycosphingolipids; D013433:Sulfoglycosphingolipids; C009233:seminolipid; D002553:Cerebroside-Sulfatase