Beschreibung:
An autosomal recessively inherited disorder caused by mutation of involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in ; ; ; large orange tonsils; and often sensory . The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.
Synonym(s):
Analphaliproteinämie /
High-Density-Lipoproteinmangel, Tangier Typ /
High-Density-Lipoproteinmangel, Typ I /
Tangier-Krankheit, Neuropathie /
Krankheiten
Ernährungs- und Stoffwechselkrankheiten