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Abetalipoproteinaemia

An unusual inherited genetic disorder of lipo protein (a protein that combines with other lipids or fats) metabolism. It is inherited in an autosomal recessive manner and is characterised by malabsorption of fats, acanthocytosis (distorted red blood cells), retinopathy (disease of the retina) ataxia (in coordination and clumsiness), slurred speech, muscle weakness, curvature of the spine, neuropathy (peripheral nerve disease) fatty stools, diarrhoea, and failure to thrive in infancy. Treatment with great doses of fat soluble vitamins (vitamin A, vitamin D, vitamin E and vitamin K) may slow the progression or certain abetalipoproteinaemia- related problems such as retinal degeneration.


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