Définition:
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.
Synonyme(s):
Analphalipoprotéinémie /
Déficit familial en HDL de type I /
Déficit familial en HDL de type 1 /
Neuropathie de la maladie de Tangier /
MALADIES
Maladies métaboliques et nutritionnelles