Definitions of A alphalipoprotein Neuropathies

  1.   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