Strecker G
C R Seances Soc Biol Fil. 1985;179(5):567-76.
Sialuria and sialidosis represent the two known types of genetic errors of sialic acid metabolism. Sialuria type I (or "massive Sialuria") remains a very rare disease, characterized by the daily excretion of 10 g of N-acetylneuraminic acid. Although the primary defect has not been established, the absence of a feedback inhibition of the anabolic reactions is probably involved in the massive production of free sialic acid. Sialuria type II (Salla disease) and type III are lysosomal storage diseases and the patients have shown to have a 10 to 15 fold increase in the amount of free sialic acid in urine. These sialurias probably involve a defect in translocation of sialic acid from lysosomes to the site of biosynthesis. The sialidase deficiency has been found to be responsible of a number of storage diseases previously unclassified or described as "lipomucopolysaccharidosis" or "mucolipidosis I". The sialidase deficiency, or Sialidosis, is characterized by and increased urinary excretion of sialyloligosaccharides and storage of sialylated compounds. A third type of genetic error, the combined beta-galactosidase-sialidase deficiency, is due to the genetic deficiency of a 32 KD "protective protein" which is part of the complex formed between multimeric beta-galactosidase and sialidase.
唾液酸尿症和唾液酸沉积症是已知的两种唾液酸代谢遗传缺陷类型。I型唾液酸尿症（或“大量唾液酸尿症”）仍然是一种非常罕见的疾病，其特征是每天排泄10克N - 乙酰神经氨酸。尽管原发性缺陷尚未明确，但合成代谢反应缺乏反馈抑制可能与游离唾液酸的大量产生有关。II型唾液酸尿症（萨勒病）和III型是溶酶体贮积病，患者尿液中游离唾液酸的量增加了10至15倍。这些唾液酸尿症可能涉及唾液酸从溶酶体转运到生物合成部位的缺陷。已发现唾液酸酶缺乏是一些先前未分类或被描述为“脂黏多糖贮积症”或“黏脂贮积症I型”的贮积病的病因。唾液酸酶缺乏症，即唾液酸沉积症，其特征是唾液酸寡糖的尿排泄增加和唾液酸化化合物的贮积。第三种遗传缺陷类型，即β - 半乳糖苷酶 - 唾液酸酶联合缺乏症，是由于一种32 KD“保护蛋白”的遗传缺陷所致，该蛋白是多聚体β - 半乳糖苷酶和唾液酸酶形成的复合物的一部分。
