A-alphalipoprotein Neuropathy Definition


A-alphalipoprotein Neuropathy: A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL-cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II, and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118)

Synonym: familial alpha lipoprotein deficiency disease, alpha high density lipoprotein deficiency disease, analphalipoproteinemia, tangier hereditary neuropathy, tangier disease, hdl, familial lipoprotein deficiency disease, hdl lipoprotein deficiency disease, familial hypoalphalipoproteinemia, familial high density lipoprotein deficiency disease, tangier disease neuropathy, neuropathy of tangier disease.