Genetisk brist på betalipoprotein som leder till allvarliga rubbningar i fettomsättningen och resulterar i en symtombild med akantocytos, hypokolesterolemi, tilltagande ataktisk neuropati, atypisk retinitis pigmentosa med spridning till gula fläcken. Kan behandlas med E-vitamin.
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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Microsomal Triglyceride Transfer Protein Deficiency Disease — Acanthocytosis — Acanthocytoses — Microsomal Triglyceride Transfer Protein Deficiency — Betalipoprotein Deficiency Disease — Betalipoprotein Deficiency Diseases — Deficiency Disease, Betalipoprotein — Deficiency Diseases, Betalipoprotein — Disease, Betalipoprotein Deficiency — Diseases, Betalipoprotein Deficiency — Bassen-Kornzweig Syndrome — Bassen Kornzweig Syndrome — Bassen-Kornzweig Disease — Bassen Kornzweig Disease