Infantile and Adult-Onset Metachromatic Leukodystrophy

IN certain sphingolipidoses, the age at onset of the disease correlates with the amount of detectable activity of the disease-related enzymes. Brady1 has previously shown an inverse correlation between the amount of residual enzyme activity and the rate of progression of clinical symptoms in both Gaucher's and Niemann-Pick disease. More recently a similar relation has been noted for the different forms of GM1 and GM2 gangliosidoses.2,3 The occurrence of both early and late onset variants of sulfatide lipidosis or metachromatic leukodystrophy (MLD) after periods of apparently normal development has been explained theoretically in a similar manner.4MLD is . . .