[Hereditary lysosomal storage diseases (author's transl)].
The literature on hereditary lysosomal storage diseases occurring in man and various domestic animals is reviewed. These forms of disease are usually recessively autosomally heritable and are reflected in partial or total deficiency of a lysosomal enzyme, resulting in accumulation of metabolites. The majority of these lysosomal storage diseases show a predilection for localization in the nervous system. As a rule, the main clinical features are neurological symptoms. The first symptoms are usually observed at an early age and the disease is marked by the fact that it is familial in character. Heterozygotes may be identified by controlled haematological studies in a number of these diseases. In domestic animals, these forms of disease may serve as models for human pathology and some may be of economic importance, such as mannosidosis of Angus cattle in New Zealand and GM1 gangliosidosis of Friesian cattle in Ireland.
D000818:Animals; D000829:Animals, Domestic; D001947:Breeding; D002415:Cats; D002417:Cattle; D002490:Central Nervous System / Q000473:pathology; D002869:Chromosome Aberrations / Q000662:veterinary; D025063:Chromosome Disorders; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D004285:Dogs; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008247:Lysosomes / Q000201:enzymology* / Q000648:ultrastructure; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy / Q000662:veterinary*; D014617:Vacuoles / Q000648:ultrastructure
Erfelijke lysosomale stapelingsziekten.