Xanthomatosis,Familial

《英文msh詞典》Xanthomatosis,Familial
[同義詞] Xanthomatosis,Familial
[主題詞] Wolman Disease
[中文釋義] 黃瘤病,家族性
[英文釋義] The severe infantile form of inherited lysosomal lipid storage diseases,due to deficiency of acid lipase. It results in accumulation of neutral lipids,particularly cholesterol esters,within cells (particularly leukocytes,fibroblasts,and liver cells). An allelic variant of CHOLESTEROL ESTER STORAGE DISEASE,it is also known as Wolman's xanthomatosis.