Abetalipoproteinemia also known as Bassen-Kornzweig syndrome is an inherited disorder which affects the absorption of fats, cholesterol and fat soluble vitamins.
It is very rare, with an estimated prevalence of less than 1 out of 1,000,000, only about 100 cases described worldwide. It is an autosomal recessive inherited disease.

Which enzymes are deficient? What is the reason for the enzyme deficiency?
People with this disorder are unable to synthesize beta-lipoproteins and as a result become deficient in vitamins A, D, E, K. Vitamin E is the most significant in long term.
As a result of this deficiency, the concentration of which molecules increase?
As a result of the disease there is steatorrhea or fat in large amounts in the stool.
What are the symptoms? What are the signs?
These appear in the first few months of life. They can include failure to gain weight and grow at the expected rate failure to thrive; diarrhea; abnormal star-shaped red blood cells
acanthocytosis or 'Burr-cell' malformation; and fatty, foul-smelling stools due to steatorrhea.

Is this disease age or gender specific?
The disease appears in the first few months of life, but it is not gender-specific.
How would you diagnose this disease?
Diagnosis is based on lipid analysis, after 12 hours of fasting, carried out on the patient and their parents to measure serum levels of LDL under 0.10g/L, triglycerides under 0.20 g/L, and apolipoprotein B under 0.10g/L. Identification of steatorrhea and truncated apolipoprotein B after oral lipid intake, measurement of liposoluble vitamins A, E, K, testing for acanthocytosis on blood smears, complete neurological examination, hepatic ultrasound and eye examination can also be carried out. Identification of mutations of the MTTP or APOB genes confirms the diagnosis.

Is this disease preventable?
Limiting fat intake to 5 - 20 grams per day. Do not eat more than 5 ounces daily of lean meat, fish, or poultry. Use skim milk instead of whole milk.
What is the treatment of the disease?
Treatment involves large doses of vitamin supplements containing fat-soluble vitamins vitamin A,vitamin D, vitamin E and vitamin K.
Linoleic acid supplements are also recommended.

свернуть