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Abetalipoproteinaemia is a disorder in the synthesis of serum lipoproteins
containing apolipoprotein B, for example chylomicrons, VLDL and LDL.
a rare autosomal recessive metabolic disorder
- characterized by extremely
low levels of plasma cholesterol and triglycerides and almost complete absence
of lipoproteins in the density ranges of chylomicrons, VLDL and LDL
lipids are carried almost entirely in the high density lipoproteins class
patients suffer from fat malabsorption
- may present with failure to thrive
in early childhood
- in later childhood patients develop a progressive, ataxic
neuropathy and retinopathy, attributed in part to deficiency of fat soluble vitamins,
specifically vitamins E and A
- combined high dose
vitamin E and vitamin A therapy does confer protection against severe retinal
degeneration, fundoscopic and functional retinal changes have been demonstrated,
suggesting a role for other factors, including polyunsaturated fatty acid deficiency
and ongoing oxidative damage
- (1) J. Kane and R. Havel, Disorders of the biogenesis and secretion of lipoproteins
containing the B apolipoproteins. In: C. Scriver, A. Beaudet, W. Sly and D.
Valle, Editors, The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill,
New York (2001): 2717-2752.
- (2) Granot E, Kohen R.Oxidative stress in abetalipoproteinemia patients
receiving long-term vitamin E and vitamin A supplementation, Am. J. Clin.
Nutr. 2004;79: 226-230
- (3) Sharp, D. et al. Cloning and gene defects in
microsomal triglyceride transfer protein associated with abetalipoproteinaemia.
Nature 1993;365: 65-9.
Last reviewed 03/2021