Abetalipoproteinaemia - Symptom, Treatment and cause of abetalipoproteinaemia

Abetalipoproteinaemia Description

(Bassen-Komzweig Syndrome)

Rare abnormality of body fat metabolism (chemistry).

Abetalipoproteinaemia Cause

Congenital birth defect that prevents absorption of fat and vitamin E from food and prevents production of necessary body fats in the liver.

Abetalipoproteinaemia Symptom

Child with foul smelling fatty diarrhoea, low body weight, retarded growth, poor coordination, abnormal sensations and pigmented retina at back of the eye.

Investigation

Abnormal red blood cells, and very low levels of fats (cholesterol and triglycerides) in the blood.

Abetalipoproteinaemia Treatment

Fat restricted diet, special dietary supplements and vitamin E.

Complications

Permanent brain damage.

Prognosis of Abetalipoproteinaemia

Poor.