acid-phosphatase and Tay-Sachs-Disease

Although reduced acid beta-glucosidase activity appears to be the primary enzyme defect in type I Gaucher disease, patients with this disorder also have marked elevation of serum acid phosphatase and beta-hexosaminidase activities but with a normal level of lactic dehydrogenase activity. Moreover, there is a characteristic alteration in the hexosaminidase isozyme distribution with a striking increase in hexosaminidase B. Since these changes appear to be consistent and unlike those associated with other disorders or the hormonally induced alterations associated with pregnancy, routine serum testing for the Tay-Sachs carrier state may offer a useful approach for the presumptive diagnosis and screening for Gaucher disease. Unlike the changes in affected homozygotes, there are no characteristic alterations of acid phosphatase or hexosaminidase in heterozygotes for Gaucher disease.

Topics: Acid Phosphatase; Diabetes Mellitus, Type 1; Female; Gaucher Disease; Genetic Carrier Screening; Hexosaminidases; Humans; Pregnancy; Tay-Sachs Disease

Tay-Sachs disease and normal fetal cerebellar cells were maintained in culture for up to four weeks. Elevated levels of the lysosomal enzymes hexosaminidase B, beta-galactosidase, and acid phosphatase were observed in the Tay-Sachs cells in long term cultures although elevated lysosomal enzyme levels were not observed in the normal cultures. Similarly, elevated lysosomal enzyme activities were observed in Tay-Sachs cultures which had been treated with Concanavalin A.

Topics: Acid Phosphatase; beta-Galactosidase; Cells, Cultured; Cerebellum; Female; Fetus; Hexosaminidases; Humans; Hydrolases; Kinetics; Lysosomes; Pregnancy; Reference Values; Tay-Sachs Disease

Topics: Acid Phosphatase; Biopsy; Cerebral Cortex; Chromatography; Diagnosis, Differential; Electrons; Histocytochemistry; Humans; Infant; Intellectual Disability; L-Lactate Dehydrogenase; Lipidoses; Lipids; Malate Dehydrogenase; Microscopy; Microscopy, Electron; NAD; NADP; Neuroglia; Pathology; Tay-Sachs Disease

Topics: Acid Phosphatase; Brain; Child; Histocytochemistry; Humans; Infant; Lipidoses; Neurons; Tay-Sachs Disease

Topics: Acid Phosphatase; Alkaline Phosphatase; Brain; Cerebellar Diseases; Cholinesterases; Dihydrolipoamide Dehydrogenase; Electron Transport Complex IV; Glucosephosphate Dehydrogenase; Glutamate Dehydrogenase; Histocytochemistry; Histological Techniques; Humans; Hydrocephalus; Infant; L-Lactate Dehydrogenase; Lipidoses; Meningoencephalitis; Pathology; Succinate Dehydrogenase; Tay-Sachs Disease

Topics: Acid Phosphatase; Adenosine Triphosphatases; Humans; Intellectual Disability; Lipidoses; Neuroglia; Oxidoreductases; Tay-Sachs Disease