Rutgers C, Gruys E
Tijdschr Diergeneeskd. 1979 Nov 15;104(22):865-76.
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.
本文综述了发生在人类和各种家畜身上的遗传性溶酶体贮积病的相关文献。这些疾病形式通常为常染色体隐性遗传，表现为溶酶体酶部分或完全缺乏，导致代谢产物蓄积。这些溶酶体贮积病大多倾向于定位于神经系统。通常，主要临床特征为神经症状。最初症状通常在幼年时出现，且该病具有家族性这一特点。在许多这类疾病中，杂合子可通过对照血液学研究得以识别。在家畜中，这些疾病形式可作为人类病理学的模型，有些可能具有经济重要性，比如新西兰安格斯牛的甘露糖苷贮积症以及爱尔兰弗里斯兰牛的GM1神经节苷脂贮积症。
