Yuce A, Kocak N, Besley G T
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 1996 Jan-Mar;38(1):85-9.
Galactosialidosis is a rare lysosomal storage disease associated with deficiencies of alpha-galactosidase and beta-neurominidase. In this report, two siblings with galactosialidosis, resembling Niemann-Pick disease with the presence of foamy cells in multiple organs, splenomegaly and prominent hepatomegaly, are presented. Galactosidase deficiency and an increased number of urinary sialic acid compounds were determined in these cases, and prenatal diagnosis was performed for their fourth sibling. Besides the presence of the typical clinical features, enzyme study is essential for the diagnosis of lysosomal storage disease and it facilitates in making the prenatal diagnosis.
半乳糖唾液酸贮积症是一种罕见的溶酶体贮积病，与α-半乳糖苷酶和β-神经氨酸酶缺乏有关。在本报告中，介绍了两名患有半乳糖唾液酸贮积症的兄弟姐妹，他们表现出类似尼曼-匹克病的症状，多个器官出现泡沫细胞、脾肿大和明显的肝肿大。在这些病例中检测到半乳糖苷酶缺乏和尿唾液酸化合物数量增加，并对他们的第四个兄弟姐妹进行了产前诊断。除了典型的临床特征外，酶学研究对于溶酶体贮积病的诊断至关重要，并且有助于进行产前诊断。
