BASSEN KORNZWEIG DISEASE
\bˈasən kˈɔːnzwe͡ɪɡ dɪzˈiːz], \bˈasən kˈɔːnzweɪɡ dɪzˈiːz], \b_ˈa_s_ə_n k_ˈɔː_n_z_w_eɪ_ɡ 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)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
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- Bassen Kornzweig Disease
- bassen kornzweig diseases
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