Journal article

Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry

PD Whitfield, PC Sharp, DW Johnson, P Nelson, PJ Meikle

Molecular Genetics and Metabolism | ACADEMIC PRESS INC | Published : 2001


Metachromatic leukodystrophy is an inherited disorder characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neural and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity, but may be complicated in cases of arylsulfatase A pseudodeficiency and sphingolipid activator protein deficiency. Large quantities of sulfatide can be detected in the urinary sediment of affected individuals and its measurement can aid in diagnosis. A number of complex methods have been described for the measurement of urinary sulfatide excretion. We have developed a rapid, sensitive, and specific mass sp..

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University of Melbourne Researchers