Dyslipidemias pp 251-266 | Cite as

Genetic Abetalipoproteinaemia and Hypobetalipoproteinaemia

  • Amanda J. Hooper
  • John R. BurnettEmail author
Part of the Contemporary Endocrinology book series (COE)


The monogenic hypocholesterolaemic lipid disorders are classified depending on the lipid biochemical phenotype, gene involved, and mode of inheritance of the condition, together with the severity of the mutation or mutations present. These disorders may or may not be associated with clinical manifestations such as fat malabsorption, growth failure, fat-soluble vitamin deficiency, fatty liver disease, and neuro-ophthalmological dysfunction. We have reviewed the molecular basis, pathogenesis, and clinical aspects of these disorders of apolipoprotein (apo) B production and catabolism, focusing on abetalipoproteinaemia, familial hypobetalipoproteinaemia, and chylomicron retention disease.


Abetalipoproteinaemia Apolipoprotein B Cholesterol Chylomicron retention disease Familial hypobetalipoproteinaemia Genetics Hypobetalipoproteinaemia Hypocholesterolaemia Low-density lipoprotein Microsomal triglyceride transfer protein Molecular mechanisms Regulation Triglyceride Very low-density lipoprotein 



This work was supported by the National Health and Medical Research Council Project Grant 1010133 (to AJH and JRB) and a Practitioner Fellowship from the Royal Perth Hospital Medical Research Foundation (to JRB).


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© Humana Press 2015

Authors and Affiliations

  1. 1.Department of Clinical Biochemistry, PathWest Laboratory Medicine WARoyal Perth HospitalPerthAustralia
  2. 2.School of Medicine & PharmacologyUniversity of Western AustraliaPerthAustralia
  3. 3.Schools of Medicine & Pharmacology and Pathology & Laboratory MedicineUniversity of Western AustraliaPerthAustralia

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