BETALIPOPROTEIN DEFICIENCY DISEASE
\bˌiːtəlˈɪpəpɹˌə͡ʊtiːn dɪfˈɪʃənsi dɪzˈiːz], \bˌiːtəlˈɪpəpɹˌəʊtiːn dɪfˈɪʃənsi dɪzˈiːz], \b_ˌiː_t_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 disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of APOLIPOPROTEINS B and apoB-containing lipoproteins in plasma. Microsomal triglyceride transfer protein is deficient or absent in enterocytes. Clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea. Intellectual abilities may also be impaired. (Menkes, Textbook of Child Neurology, 5th ed, p118; Curr Opin Lipidol 1994 Apr;5 (2):81-6)
By DataStellar Co., Ltd
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