BASSEN KORNZWEIG SYNDROME
\bˈasən kˈɔːnzwe͡ɪɡ sˈɪndɹə͡ʊm], \bˈasən kˈɔːnzweɪɡ sˈɪndɹəʊm], \b_ˈa_s_ə_n k_ˈɔː_n_z_w_eɪ_ɡ s_ˈɪ_n_d_ɹ_əʊ_m]\
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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
Nearby Words
- basse-normandie
- bassedau
- basselises
- bassen kornzweig disease
- bassen kornzweig diseases
- Bassen Kornzweig Syndrome
- basses
- basset
- basset horn
- basset hound
- basset oboe