Genetic Errors of Glycoprotein Metabolism

ISBN-13: 9783642515842 / Angielski / Miękka / 2012 / 220 str.

P. Durand; J. S. O'Brien

Opis

On starting to write the preface it occured to the editors that it might be a good idea to incorporate so me organizational thoughts. First of all, why have. we organized this book on -Glycoprotein storage diseases," an unfamiliar area of pathology unlikely to be encountered in practice? In preparing such a volume we considered that in the past ten years there has been a large amount of intensive research activity on glycoproteinoses and no detailed review has been entirely devoted to this subject. This research has led to new information about hereditary mental retardation and progressive neurologie degeneration, and as clinicians we are impressed with its clinical importance. This volume is intended to represent for the uninitiated as weH as for the expert a summary of studies on dis orders of glycoprotein catabolism written by experts in each area. Each author has written with freedom about his particular experience, describing the establishment and development of his investigations, his methods, the utility and limitations of his work and eventual sources of problems. We are grateful for their many fundamental studies and for their having generously accepted to partecipate in this book. The Editors Acknowledgements We wish to express our gratitude to our friends and colleagues G. Romeo, W.S. Sly and G. Tettamanti whose criticism and suggestions have significantly improved the quality of particular chapters or sections."

Spis treści

to glycoprotein storage diseases.- General introduction.- Historical review.- Fucosidosis.- Mannosidosis.- Aspartylglucosaminuria.- Sialidosis.- Glycoprotein storage in other lysosomal diseases.- to glycoprotein metabolism.- General criteria.- Biosynthesis of glycoproteins.- Catabolism of glycoproteins.- Processing and compartmentalization of lysosomal enzymes.- Differential diagnosis of glycoproteinoses.- Clinical assessment.- Neurological signs.- Ocular signs.- Extraneuronal signs.- Clinical and biochemical heterogeneity.- Racial and genetic considerations.- Preliminary laboratory tests.- Strategy for enzyme tests.- Histology and electron microscopy.- Carrier detection.- Prenatal diagnosis.- The chromosomal localization of the mutant genes.- Selected references.- 2 Sialidosis.- Clinical phenotypes.- Sialidosis type 1 - Normosomatic group.- Sialidosis type 2 - Dysmorphic group.- Genetics.- Nature of the storage compounds.- The nature of the neuraminidase defect.- Effect of the neuraminidase defect on the other lysosomal hydrolases.- ?-galactosidase deficiency.- Neuraminidase deficiency in other disorders.- Methods for diagnosis.- References.- 3 Fucosidosis.- Clinical description.- Fucosidosis type 1.- Laboratory data.- Fucosidosis type 2.- Laboratory data.- Atypical cases.- Incidence and genetics.- Pathology.- Autopsy findings.- Microscopic and ultrastructural changes.- Skin lesions.- Ocular lesions.- Brain lesions.- Liver lesions.- Other tissues.- The enzymatic defect.- Properties of normal human ?-L-fucosidase.- Multiple forms.- Kinetic and physical properties.- Substrate specificity.- Immunological studies.- ?-L-fucosidase uptake.- Properties of ?-L-fucosidase in fucosidosis.- Multiple forms.- Kinetic and physical properties.- Immunological studies.- 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.- Accumulation of blood group substances.- Urinary excretion of fucose-containing material.- Laboratory diagnosis of fucosidosis.- Enzymatic analysis.- Source of enzyme.- Enzyme assay.- Urine analysis.- Detection of carriers.- Prenatal diagnosis.- Animal model of the disease.- ?-D-fucosidase.- References.- 4 Mannosidosis.- Clinical symptomatology.- General problems.- Early development and onset of symptoms.- Mental retardation.- Motor functions.- Sensorineural hearing loss.- Facial features.- Skeletal changes.- Ocular changes.- Hepatomegaly and hepatosplenomegaly.- General health and physical growth.- Other clinical data.- Clinical heterogeneity.- Genetic studies.- Histochemistry and ultrastructure.- Nature of the storage material.- Enzymology.- Molecular weight and subunits.- Isoelectric point.- Separation of isoenzymes.- Immunological properties.- Substrates.- pH optimum.- Stability.- Activators and inhibitors.- Michaelis constant.- Enzyme dynamics.- Diagnosis.- Clinical.- Morphological.- Genetic.- Chemical.- Enzymic.- Definitive diagnosis.- Detection of carriers.- Prenatal diagnosis.- Animal models.- References.- 5 Aspartylglucosaminuria.- Clinical features.- Early History.- Early neurological manifestations.- Mental retardation and behaviour.- Motor symptoms and signs.- Characteristics of face and body.- Skeletal changes.- Disturbances of physical growth and endocrine functions.- Other clinical data.- Clinical course.- Biochemistry.- The N-acetylglucosaminyl-asparagine linkage.- Catabolism of glycoprotein and aspartylglucosaminidase.- Deficiency of AADGase in aspartylglucosaminuria.- Urinary excretion of products of glycoprotein catabolism.- Storage material.- Diagnosis.- Detection of AADG in urine.- Assay of AADGase.- Pathology.- Morphological changes in different organs.- Brain.- Liver.- Skin.- Lymphocytes.- Other tissues.- Cultured fibroblasts.- General pathological findings.- Clinicopathological correlations.- Epidemiology.- Carrier detection.- Prenatal diagnosis.- References.- 6 Gm1 Gangliosidosis and Sandhoff disease.- and general comments.- Gm1 Gangliosidosis.- Phenotypic descriptions.- The enzyme defect.- Chemistry of the storage products.- Properties of acidic and neutral ?-galactosidases and their involvement in Gm1 gangliosidosis.- Nature of the mutation in Gm1 gangliosidosis.- Explanation of Gm1 gangliosidosis phenotype.- Animal models.- Sandhoff disease.- Phenotypic description.- Enzyme defect in Sandhoff disease.- Chemistry of the storage products.- Properties of hexosaminidase A and B and their involvement in Sandhoff disease.- Nature of the mutation in Sandhoff disease.- Animal models.- References.- 7 Salla disease.- Clinical features.- Early history.- Physical findings.- Mental retardation.- Neurological findings.- Neurophysiological findings.- 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.