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Abetalipoproteinaemia
Medical Questions » Abetalipoproteinaemia
| Name: Abetalipoproteinaemia |
| Also known as: Bassen-Kornzweig Syndrome |
| A rare abnormality of body fat metabolism. |
Causes of Abetalipoproteinaemia
Congenital birth defect that prevents absorption of fat and vitamin E from food and prevents production of necessary body fats in the liver. |
Symptoms of Abetalipoproteinaemia
Child with foul smelling fatty diarrhoea, low body weight, retarded growth, poor coordination, abnormal sensations and pigmented retina at back of the eye. |
Tests for Abetalipoproteinaemia
Abnormal red blood cells, and very low levels of fats (cholesterol and triglycerides) in the blood. |
Treatment for Abetalipoproteinaemia
Fat restricted diet, special dietary supplements and vitamin E.
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Complications of Abetalipoproteinaemia of its treatment
Permanent brain damage. |
Likely Outcome of Abetalipoproteinaemia
Poor |
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