《英文msh詞典》Sphingolipid Storage Disease
[入口詞] Sphingolipid Storage Disease
[主題詞] Sphingolipidoses
[英文釋義] A group of inherited metabolic disorders characterized by an excessive intra-lysosomal deposition of glycosphingolipids and phosphosphingolipids in the CENTRAL NERVOUS SYSTEM and,to a variable degree,in visceral structures. Clinical features vary with the specific subtype of the disease,but common features include progressive deterioration in psychomotor and visual function. (From Arch Neurol 1998 Aug;55(8):1055-6; Menkes,Textbook of Child Neurology,5th ed,p89)