Number of the records: 1
abetalipoproteinémia
Record number d000012 Date 06.06.2025 Type M Topical term abetalipoproteinémia Other term English (Pseudonym) Bassen-Kornzweig Syndrome
English (Pseudonym) Microsomal Triglyceride Transfer Protein Deficiency
Slovak (Pseudonym) Bassenov-Kornzweigov syndróm
Slovak (Pseudonym) Bassenova-Kornzweigova choroba
Slovak (Pseudonym) choroba z deficitu mikrozomálneho proteínu prenášajúceho triglyceridy
Slovak (Pseudonym) deficit mikrozomálneho proteínu prenášajúceho triglyceridy
Slovak (Pseudonym) choroba z deficitu mikrozómového proteínu prenášajúceho triglyceridy
Slovak (Pseudonym) deficit mikrozomálneho triacylglyceroly transferujúceho proteínu
Slovak (Pseudonym) choroba z deficitu mikrozómového proteínu prenášajúceho triacylglyceroly
Slovak (Pseudonym) choroba z deficitu betalipoproteínu
Slovak (Pseudonym) choroba z nedostatku betalipoproteínov
Slovak (Pseudonym) akantocytóza
See also (Later heading) apolipoproteíny B
UDC C16.320.565.398.500.440.500C18.452.584.500.875.440.500C18.452.584.563.500.440.500C18.452.648.398.500.440.500 Note An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. 
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Number of the records: 1