ABCA1 AR unreviewed
Tangier disease
Reverse cholesterol transport
Enzyme or protein defect
ABCA1 cholesterol efflux transporter
Accumulates or becomes deficient
Cholesteryl esters in reticuloendothelial cells
Key features
Near-absent HDL, orange tonsils, hepatosplenomegaly, neuropathy
Management
Supportive
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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