Leukodystrophies Sulfatase

Metachromatic leukodystrophy AR Aryl sulfatase A Accumulation of sulfatide in brain see text 1,2, Ch. 40... 

Iversen SD 5-HT and anxiety. Neuropharmacology 23 156-164, 1984 Iwamori M, Moser HW, Kishimoto Y Steroid sulfatase in brain comparison of sulfohydrolase activities for various steroid sulfates in normal and pathological brains, including various forms of metachromatic leukodystrophy. J Neurochem 27 1389-1395, 1976... 

In case of a deficiency of arylsulfatase A, at least one other sulfatase should be measured to exclude multiple sulfatase deficiency (see Chap. 4.1 for the assays of arylsulfatase and other sulfatases). Sulfatide excretion in urine should be measured (see assay below) and/or mutation analysis should to performed to confirm the diagnosis, especially if the clinical symptoms are atypical and in order to exclude a pseudodeficiency of arylsulfatase A. The enzyme should always be measured in the parents to check for the presence of compound heterozygosity of a metachromatic leukodystrophy and a pseudodeficiency allele. This is very important for the interpretation of the results of arylsulfatase A assays, especially when performed in asymptomatic or presymptomatic siblings or in the context of a prenatal diagnosis. Sulfatide should also be measured in case a normal arylsulfatase A activity is found in a patient with symptoms characteristic of (juvenile) metachromatic leukodystrophy. Increased urinary sulfatide excretion is indicative of an activator protein/saposin deficiency (Fig. 4.4.1). 

Other lysosomal storage disorders include G j gangliosidoses, G gangliosidoses, Gaucher disease, Niemann-Pick disease, Fabry disease, fucosidosis, Schindler disease, metachromatic leukodystrophy, Krabbe disease, multiple sulfatase deficiency, Farber disease, and Wolman disease. Table 28-1 illustrates the enzyme deficiencies found in some of these disorders. 

Dubois, G., Harzer, K.. and Bauman, N., Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. Am. J. Hum. Genet. 29, 191-194 (1977). 

Eto, Y., Rampini, S., Wiesmann, U., and Herschkowitz, N. N., Enzymic studies of sulfatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sulfatase deficiencies. ]. Neurochem. 23, 1161-1170 (1974a). 

Harzer, K., StinshofF, K., Mraz, W., and Jatzkewitz, H., The patterns of arylsul tases A and B in human normal and metachromatic leukodystrophy tissues and their relationship to the cerebroside sulfatase activity. J. Neurochem. 20, 279-287 (1973). 

Inui, K., Emmett, M., and Wenger, D. A., Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy. Proc. Natl. Acad. Sci. U.S.A. 80, 3074-3077 (1983). 

Moser, H. W., Sugita, M., Harbison, M. D., and Williams, M. Liver glycolipid steroid sulfates and steroid sulfatases in a form of metachromatic leukodystrophy associated with multiple sulfatase deficiencies. In Sphingolipids, Sphingolipidosis, and Allied Disorders (D. W. Volk, and S. M. Aronson, eds.), pp. 429-450, Plenum, New York, 1972. 

Porter, M. T., Fluharty, A. L., Trammell, J., and Kihara, M., A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachroraatic leukodystrophy. Biochem. Biophys. Res. Commun. 44, 660-666 (1971a). 

D. Armstrong, and L. Shearer Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity A controlled study of brain, liver and kidneys in four patients with metachromatic leukodystrophy (MLD). Arch. Neurol. (Chic.) 13, 593 (1965 a). 

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