A ALPHALIPOPROTEIN NEUROPATHY
\ɐ ˈalfəlˌɪpəpɹˌə͡ʊtiːn njuːɹˈɒpəθɪ], \ɐ ˈalfəlˌɪpəpɹˌəʊtiːn njuːɹˈɒpəθɪ], \ɐ ˈa_l_f_ə_l_ˌɪ_p_ə_p_ɹ_ˌəʊ_t_iː_n n_j_uː_ɹ_ˈɒ_p_ə_θ_ɪ]\
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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)
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Platidiam
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