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Tangier Disease: HIGH DENSITY LIPOPROTEIN DEFICIENCY DUE TO DEFECTIVE METABOLISM OF AN ABNORMAL APOLIPOPROTEIN A-I (APOA-ITANGIER)
Ernst J. Schaefer, … , Loren A. Zech, H. Bryan Brewer Jr.
Ernst J. Schaefer, … , Loren A. Zech, H. Bryan Brewer Jr.
Published November 1, 1982
Citation Information: J Clin Invest. 1982;70(5):934-945. https://doi.org/10.1172/JCI110705.
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Tangier Disease: HIGH DENSITY LIPOPROTEIN DEFICIENCY DUE TO DEFECTIVE METABOLISM OF AN ABNORMAL APOLIPOPROTEIN A-I (APOA-ITANGIER)

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Abstract

Tangier disease is a rare familial disorder characterized by enlarged orange tonsils, transient peripheral neuropathy, hepatosplenomegaly, and lymphadenopathy, as well as striking reductions in plasma high density lipoproteins (HDL) and their major protein constituents, apolipoproteins (apo)A-I and A-II. In order to test the hypothesis that Tangier patients have abnormal apoA-I or apoA-II, the in vitro lipoprotein binding and in vivo metabolic characteristics of these proteins isolated from normal and Tangier plasma, were studied in normal subjects and patients with Tangier disease.

Authors

Ernst J. Schaefer, Linda L. Kay, Loren A. Zech, H. Bryan Brewer Jr.

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