Abstract
Аbetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are genetic disorders characterised by a deficiency of chylomicrons, low (LDL) and very low density lipoproteins. ABL is a rare disease (mutations of the MTTР gene) with autosomalrecessive inheritance, associated with a deficiency or complete absence of beta-lipoproteins, and also an impaired absorption and transport of fats. FHBL is a pathology with various types of inheritance (dominant and autosomal-recessive) and genetic mutations of the APO-B gene. Individuals with this disease usually have low levels of LDP cholesterol, associated with low levels of APO-B. The clinical symptoms are varied and associated with a deficiency of all fat-soluble vitamins, they include: diarrhoea, delayed physical and cognitive development, retinitis pigmentosa with retinal degeneration, loss of vision, acanthocytosis, anaemia. Prognosis may vary but early diagnosis and strict adherence to treatment regimens might restore the normal neurological function and stop the progression of disease. If left untreated, disease might be fatal. Key words: abetalipoproteinemia, familial hypobetalipoproteinemia, fat-soluble / liposoluble vitamins А
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