Journal article

Biochemical profiling to predict disease severity in metachromatic leukodystrophy

MAF Tan, M Fuller, ZAMH Zabidi-Hussin, JJ Hopwood, PJ Meikle

Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2010


Metachromatic leukodystrophy is a neurodegenerative disease that is characterized by a deficiency of arylsulfatase A, resulting in the accumulation of sulfatide and other lipids in the lysosomal network of affected cells. Accumulation of sulfatide in the nervous system leads to severe impairment of neurological function with a fatal outcome. Prognosis is often poor unless treatment is carried out before the onset of clinical symptoms. Pre-symptomatic detection of affected individuals may be possible with the introduction of newborn screening programs. The ability to accurately predict clinical phenotype and rate of disease progression in asymptomatic individuals will be essential to assist s..

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