Lemonnier M, Lecat D, Bourrillon R, Maroteaux P
C R Acad Hebd Seances Acad Sci D. 1978 Sep 11;287(4):353-6.
Mucolipidosis I involves a tremendous increase of the urinary excretion of sialoglycopeptides and sialyloligosaccharides. This enhancement is due to the excretion of O- and N-glycosidic peptides and oligosaccharides, which normal urine is devoid of as shown by the chemical composition and electrophoresis or thin-layer analysis. This finding is in agreement with the recent finding of an alpha-neuraminidase deficiency for this disease.
I型粘脂贮积症患者尿中唾液酸糖肽和唾液酸寡糖的排泄量大幅增加。这种增加是由于O-糖苷肽和N-糖苷肽以及寡糖的排泄，正常尿液的化学成分、电泳或薄层分析显示其中不存在这些物质。这一发现与最近关于该疾病存在α-神经氨酸酶缺乏的发现一致。
