Metachromatic leukodystrophy – what is new?
DOI:
https://doi.org/10.13112/pc.742Keywords:
LEUKODYSTROPHY, METACHROMATIC – diagnosis, genetics, physiopathology, therapyAbstract
Lysosomal storage disorders have long been considered as not specifically treatable. This is changing now for a number of these diseases and is the case also for metachromatic leukodystrophy. Metachromatic leukodystrophy is a rare inborn error of metabolism caused by arylsulfatase A deficiency and if left untreated it leads to severe neurological symptoms and early death in pediatric patients. This paper gives an update on the genetics, pathophysiology and clinical course of metachromatic leukodystrophy and discusses the treatment protocols which are currently developed for metachromatic leukodystrophy, such as stem cell transplantation and enzyme replacement as well as gene therapy approaches.
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