Metachromatic Leukodystrophy (MLD)

Publisher Website
Google Scholar
Abstract
ADULTS, as well as children, develop metachromatic leukodystrophy (MLD). Does the adult with MLD also have a sulfatase A deficiency? If he does, can this enzyme deficiency really explain his illness? For example, if one presumes that the enzymic defect is inborn, why did his symptoms not begin when he was a child? Are different mechanisms involved in the delayed demyelination of adult MLD than in the form of MLD which affects young children?1-3 Answers to questions posed in the MLD model may help explain why other neurological disorders, though "inborn," appear clinically only later in life. The purpose of the present report is threefold: (1) to note sulfatase studies and other laboratory data in a 62-year-old adult with MLD; (2) to review the pertinent literature and to comment on some special clinical features and pathogenic mechanisms of adult MLD; (3) to synthesize from this information a working