Wilcken B, Don N, Greenaway R, Hammond J, Sosula L
Oliver Latham Laboratory, NSW Department of Health, Sydney, Australia.
J Inherit Metab Dis. 1987;10(2):97-102. doi: 10.1007/BF01800030.
A case of sialuria is described in a girl who presented in the neonatal period with hepatosplenomegaly, and who has moderate developmental delay at the age of 2 years. There was massive urinary excretion of free sialic acid (N-acetylneuraminic acid). The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder.
本文描述了一例唾液酸尿症病例，患儿为一名女童，新生儿期即出现肝脾肿大，2岁时存在中度发育迟缓。其尿中大量排泄游离唾液酸（N-乙酰神经氨酸）。临床、生化及超微结构特征与萨勒病及婴儿唾液酸贮积症中所描述的不同。
