Queston #21036Note

Tangier diseaseĀ 
– due to autosomal recessive mutation in ABCA1 gene, which encodes the ATP cassette transporter proteinĀ 
– Signs + sx: deficiency of HDL, enlarged tonsils with an orange-yellow discoloration, and peripheral neuropathyĀ 
– can also have hepatosplenomegaly, lymphadenopathy, thrombocytopenia, anemia, CAD, and corneal clouding