Metachromatic leukodystrophy: clinical and enzymatic parameters.
Metachromatic leukodystrophy is a recessively inherited disease of children and adults. The basic disorder is a failure of the catabolism of sulfatide, the sulfate ester of galactose cerebroside. This lipid is a component of the myelin membrane and is probably a component of neuronal membranes as well. The various forms of clinical presentation, the aids to diagnosis, the genetic variations of arylsulfatase A, the enzyme involved in sulfatide catabolism, and possible approaches to therapy are presented.
D000293:Adolescent; D000328:Adult; D002553:Cerebroside-Sulfatase / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005347:Fibroblasts / Q000201:enzymology; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000201:enzymology; D008875:Middle Aged; D009431:Neural Conduction; D013433:Sulfoglycosphingolipids / Q000652:urine
D013433:Sulfoglycosphingolipids; D002553:Cerebroside-Sulfatase