Gaye Eryaşar, Yeşim Beckmann, Yaprak Seçil

Izmir Atatürk Training And Research Hospital 1 Neurology Department

Keywords: Leukodystrophy, metachromatic.


Metachromatic Leukodystrophy(MLD) is a lisosomal storage disorder which is characterized with arylsulphatase A deficiency. Enzyme deficiency results with demiyelination and storage of sulphatides in central nervous system.According to onset age;the disease has three major clinical forms as late infantile,juvenile and adult form. It is a rare disorder. For the patients who did not develop neurological findings bone marrow or hematopoietic stem cell transplantation may be effective as treatment.