FAMILIAL ALPHA LIPOPROTEIN DEFICIENCY DISEASE
\famˈɪlɪəl ˈalfə lˈɪpəpɹˌə͡ʊtiːn dɪfˈɪʃənsi dɪzˈiːz], \famˈɪlɪəl ˈalfə lˈɪpəpɹˌəʊtiːn dɪfˈɪʃənsi dɪzˈiːz], \f_a_m_ˈɪ_l_ɪ__ə_l ˈa_l_f_ə l_ˈɪ_p_ə_p_ɹ_ˌəʊ_t_iː_n d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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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)
By DataStellar Co., Ltd
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Nearby Words
- familia
- familial
- familial acoustic neuroma
- familial acoustic neuromas
- familial adenomatous polyposis coli
- Familial alpha Lipoprotein Deficiency Disease
- familial amyloid neuropathies
- familial amyloid neuropathy
- familial amyloid neuropathy, andrade type
- familial amyloid polyneuropathies
- familial amyloid polyneuropathy