Metachromatic Leukodystrophy

INFANTILE metachromatic leukodystrophy (MLD) is a genetically determined fatal lipidosis, in which sulfatides (cerebroside sulfates) accumulate in various organs but chiefly affect the white matter of the nervous system.¹⁻³The activity of the enzyme arylsulfatase-A (ASA) is deficient in patients with MLD. Mehl has shown that purified ASA can degrade cerebroside sulfate in vitro,⁴and it is postulated that ASA deficiency results in the accumulation of cerebroside sulfate.⁵Various forms of therapy have been attempted in an effort to alter the natural course of the disease, but none has been effective.⁵⁻⁸ Replacement of ASA might degrade the accumulated cerebroside sulfate and there by be an effective treatment. This paper describes the results of both intravenous and intrathecal infusion of ASA in a patient with the late infantile form of metachromatic leukodystrophy. Report of a Case The boy was born uneventfully on Aug 20, 1963 with