Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy

A Kohlschütter - Handbook of clinical neurology, 2013 - Elsevier
Genetic deficiencies of lysosomal catabolic pathways lead to storage disorders with multiple
organ abnormalities or to degeneration of purely nervous structures. Krabbe disease and
metachromatic leukodystrophy are caused by metabolic errors concerning lipids of neural
membranes. They are characterized by demyelination of the central nervous system and,
variably, the peripheral nerves. Their clinical presentation is a relentlessly progressive motor
and mental deterioration starting at any age between infancy and adolescence. MRI …