Deficiency is seen only in children with abetalipoproteinaemia and in patients on long-term parenteral nutrition. The severe neurological deficit (gross ataxia) can be prevented by vitamin E injection.
Abetalipoproteinemia (ABL) is a rare inherited disorder characterized by difficulty in absorbing fat during digestion. The result is absence of betalipoproteins in the blood, abnormally shaped red blood cells, and deficiencies of vitamins A, E, and K.
Congenital birth defect that prevents absorption of fat and vitamin E from food and prevents production of necessary body fats in the liver.
Child with foul smelling fatty diarrhoea, low body weight, retarded growth, poor coordination, abnormal sensations and pigmented retina at back of the eye.
Is abetalipoproteinemia rare?
Yes, abetalipoproteinemia is rare.
- Incidentally, abetalipoproteinemia affects twice as many males as females
- It is an autosomal recessive disease, so someone would have to inherit two bad copies of the gene in order to be afflicted.
Treatment of Abetalipoproteinemia
Treatment for abetalipoproteinemia attempts to slow down the effects of inadequate fat absorption. Treatment involves fat restricted diet, special dietary supplements and vitamin E.
In complication condition, abetalipoproteinaemia may cause permanent brain damage.
Since vitamin E is fat-soluble, the body can store it for long periods. Deficiency is rare, and often tied to diseases that impair the body's ability to absorb fat, such as cystic fibrosis, chronic cholestatic liver disease, short-bowel syndrome, and the rare, inherited disorder called abetalipoproteinemia.