Email

Analphalipoproteinemias

An autosomal recessively inherited disorder caused by Mutation of ATP-Binding Cassette Transporters involved in cellular Cholesterol removal (reverse-Cholesterol transport). It is characterized by near absence of alpha-Lipoproteins (High-Density Lipoproteins) in Blood. The massive Tissue deposition of Cholesterol Esters results in Hepatomegaly; Splenomegaly; Retinitis Pigmentosa; large orange Tonsils; and often sensory Polyneuropathy. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.