唾液酸贮积症：临床与生化变异观察
Sialic acid storage disorders: observations on clinical and biochemical variation.
作者信息
Mancini G M, Verheijen F W, Beerens C E, Renlund M, Aula P
机构信息
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
出版信息
Dev Neurosci. 1991;13(4-5):327-30. doi: 10.1159/000112181.
Lysosomal accumulation of free sialic acid results in two phenotypically distinct inherited metabolic disorders, Salla disease and infantile sialic acid storage disease. Clinical and biochemical findings in both diseases are reviewed. Recent studies indicate that sialic acid storage is a consequence of defective function of a lysosomal membrane transport system specific for sialic acid and some other acidic monosaccharides.
游离唾液酸在溶酶体中的蓄积导致两种表型不同的遗传性代谢紊乱，即萨勒病和婴儿型唾液酸贮积病。本文综述了这两种疾病的临床和生化研究结果。最近的研究表明，唾液酸贮积是一种溶酶体膜转运系统功能缺陷的结果，该转运系统对唾液酸和其他一些酸性单糖具有特异性。
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