Genetic Errors of Glycoprotein Metabolism

to glycoprotein storage diseases.- General introduction.- Historical review.- to glycoprotein metabolism.- Differential diagnosis of glycoproteinoses.- Carrier detection.- Prenatal diagnosis.- The chromosomal localization of the mutant genes.- Selected references.- 2 Sialidosis.- Clinical phenotypes.- Genetics.- Nature of the storage compounds.- The nature of the neuraminidase defect.- Effect of the neuraminidase defect on the other lysosomal hydrolases.- Neuraminidase deficiency in other disorders.- Methods for diagnosis.- References.- 3 Fucosidosis.- Clinical description.- Incidence and genetics.- Pathology.- The enzymatic defect.- Properties of normal human ?-L-fucosidase.- Properties of ?-L-fucosidase in fucosidosis.- Variant(s) of ?-L-fucosidase causing low serum and plasma activity.- Nature of the molecular defect in fucosidosis and in low-activity serum variant.- Precursors of the storage products in fucosidosis.- Storage material in fucosidosis.- Laboratory diagnosis of fucosidosis.- Detection of carriers.- Prenatal diagnosis.- Animal model of the disease.- ?-D-fucosidase.- References.- 4 Mannosidosis.- Clinical symptomatology.- Genetic studies.- Histochemistry and ultrastructure.- Nature of the storage material.- Enzymology.- Diagnosis.- Detection of carriers.- Prenatal diagnosis.- Animal models.- References.- 5 Aspartylglucosaminuria.- Clinical features.- Biochemistry.- Diagnosis.- Pathology.- Epidemiology.- Carrier detection.- Prenatal diagnosis.- References.- 6 Gm1 Gangliosidosis and Sandhoff disease.- and general comments.- Gm1 Gangliosidosis.- Sandhoff disease.- References.- 7 Salla disease.- Clinical features.- Biochemistry.- Lysosome morphology.- Genetics of Salla disease.- References.- 8 I-cell Disease and pseudo-Hurler polydystrophy.- Background.-I-cell disease.- Pseudo-Hurler polydystrophy.- Laboratory findings.- Pathology.- Storage substances.- Incidence and genetics.- Carrier detection.- Prenatal diagnosis.- The nature of the genetic defect.- References.- 9 Conclusions and speculations.