Abstract
Abetalipoproteinemia (ABL) was originally described 35 years ago (1) and to date approximately 100 patients have been recognized to have this inborn metabolic abnormality. We have continued to follow some 25 patients with the homozygous form of either ABL or hypobetalipoproteinemia. Our efforts are directed toward the clinical and biochemical evaluation of patients with particular stress on delineating changes in the neurological system, along with ocular changes, both retinopathy and opthalmoplegia. We have carefully documented the degree of neurological abnormality in these patients and have measured their adipose tissue levels of tocopherol (vitamin E). We have also continued to characterize the apolipoprotein and lipoprotein abnormalities in these patients. This report will stress a number of facets of the disease of ABL; these include published work of our own and others, and also reflect the work in progress in a number of areas, the most important of which is the recognition that the neurological abnormalities seen in ABL are a result of vitamin E deficiency and that these neurological abnormalities can be prevented by the oral administration of vitamin E from infancy and early childhood.
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Kayden, H.J., Traber, M.G. (1986). Clinical, Nutritional and Biochemical Consequences of Apolipoprotein B Deficiency. In: Angel, A., Frohlich, J. (eds) Lipoprotein Deficiency Syndromes. Advances in Experimetal Medicine and Biology, vol 201. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-1262-8_7
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DOI: https://doi.org/10.1007/978-1-4684-1262-8_7
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