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Genetic Abetalipoproteinaemia and Hypobetalipoproteinaemia

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Dyslipidemias

Part of the book series: Contemporary Endocrinology ((COE))

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Abstract

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.

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Acknowledgements

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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Authors and Affiliations

  1. Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA, Australia

    Amanda J. Hooper BSc (Hons), PhD, FFSc (RCPA) & John R. Burnett MB ChB, MD, PhD, FRCPA, FFSc

  2. School of Medicine & Pharmacology, University of Western Australia, Perth, WA, Australia

    Amanda J. Hooper BSc (Hons), PhD, FFSc (RCPA) & John R. Burnett MB ChB, MD, PhD, FRCPA, FFSc

  3. Schools of Medicine & Pharmacology and Pathology & Laboratory Medicine, University of Western Australia, Perth, WA, Australia

    Amanda J. Hooper BSc (Hons), PhD, FFSc (RCPA)

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  1. Amanda J. Hooper BSc (Hons), PhD, FFSc (RCPA)
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  2. John R. Burnett MB ChB, MD, PhD, FRCPA, FFSc
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Correspondence to John R. Burnett MB ChB, MD, PhD, FRCPA, FFSc .

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  1. Professor of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas, USA

    Abhimanyu Garg

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Hooper, A., Burnett, J. (2015). Genetic Abetalipoproteinaemia and Hypobetalipoproteinaemia. In: Garg, A. (eds) Dyslipidemias. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-424-1_14

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