- 《英文msh詞典》HDL Lipoprotein Deficiency Disease
- [入口詞] HDL Lipoprotein Deficiency Disease
- [主題詞] Tangier Disease
- [英文釋義] A rare autosomal recessive familial disorder of cholesterol metabolism,characterized by extremely low HDL-cholesterol,reduced total cholesterol,and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II,and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al.,Principles of Neurology,6th ed,pp1347-8; Menkes,Textbook of Child Neurology,5th ed,p118)
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