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Abetalipoproteinemia and Hypobetalipoproteinemia 

Abetalipoproteinemia and Hypobetalipoproteinemia
Chapter:
Abetalipoproteinemia and Hypobetalipoproteinemia
Author(s):

Amanda J. Hooper

and John R. Burnett

DOI:
10.1093/med/9780199972135.003.0037
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date: 16 January 2021

Abetalipoproteinemia and hypobetalipoproteinemia are characterized by marked hypocholesterolemia and 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. Early diagnosis and treatment with dietary modification and replacement of fat-soluble vitamins can prevent the clinical complications.

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