A Case of Infantile Metachromatic Leukodystrophy

Abstract

Metachromatic leukodystrophy (MLD) is the neurometabolic disease caused by deficiency of enzyme arylsulfatase A resulting in deficiency of sulfatide degradation. The responsible gene is arylsulfatase A gene. We report a case of the infantile MLD that was confirmed by means of enzyme studies, nerve conduction velocity and typical MRI of brain findings.




J Neurol Res. 2014;4(5-6):139-141
doi: http://dx.doi.org/10.14740/jnr294e