CLINICAL, PRE-CLINICAL AND PRENATAL DIAGNOSIS OF CONGENITAL SPHINGOLIPIDOSES BY DETERMINING LYSOSOMAL HYDROLASES

  • 1 January 1978
    • journal article
    • review article
    • Vol. 46  (4) , 207-221
Abstract
Sphingolipidoses in infancy and adulthood and associated metabolic disturbances are caused by a recessively inherited, circumscribed lysosomal enzyme deficiency in the catabolism of various structural tissue substances. After presenting detailed methods for the quantitative assay of activities of lysosomal hydrolytic enzymes in leukocytes, serum, fibroblasts, urine and organ tissue with the aid of synthetic chromogenic and fluorescent substrates the significance of these methods for clinical diagnosis, for the detection of homozygote persons before developing clinical symptoms (preclinical diagnosis), for the preventive prenatal diagnosis and for the detection of heterozygote carriers is described for the following diseases: deficiency of hexosaminidase A and B, deficiency of .beta.-glucosidase, deficiency of arylsulfatase A, deficiency of .alpha.-galactosidase and deficiency of .alpha.-glucosidase.