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
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