Alpha-mannosidosis is an ultra-rare lysosomal disease that is caused by variants of the gene on chromosome 19p13. These variants result in faulty or absent alpha-mannosidase in lysosomes, which leads to intracellular accumulation of mannose-containing oligosaccharides.

中文翻译：

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α-甘露糖苷贮积症的诊断：减少这种极其罕见疾病的诊断延误的实用方法

α-甘露糖苷贮积症是一种极其罕见的溶酶体疾病，由染色体 19p13 上的基因变异引起。这些变异导致溶酶体中的α-甘露糖苷酶有缺陷或缺失，从而导致含甘露糖寡糖在细胞内积累。