Abetalipoproteinemia or Bassen-Kornzweig Syndrome, is a rare disease that affects the digestive tract, whose main characteristic is the inability of the body to adequately absorb the fatty components of food through the intestine, which results in the production of fatty stools (steatorrhea), impaired child development, and nerve problems.
Source
This disease is of genetic origin, proving the existence of a mutation in a gene in patients: microsomal triglyceride transfer protein (MTP). Abetalipoproteinemia affects both sexes, however it is more frequent in men, reaching up to 70% of cases. The mutation causes the body to be unable to produce blood lipoproteins , which include low-density lipoproteins (LDL), very low-density lipoproteins (VLDL), and chylomicrons. Due to this, patients with this syndrome are unable to digest fats, which leads to a deficiency in the development of nerves (neuropathy) and ataxia.
Symptoms
Symptoms include developmental delay during breastfeeding , abnormal stools (excessively greasy, fetid, and foamy), difficulties with speech, coordination, and balance, and muscle weakness leading to curvature of the spine .
Treatment
Treatment consists of following a low-fat diet to avoid digestive symptoms, and the use of vitamin supplements. Because fats are a fundamental part of development, long chain triglycerides are replaced by medium chain triglycerides, which are absorbed differently by the intestine . Consultation with a nutritionist or other medical professional is recommended for dietary advice. High doses of vitamin supplements are given that contain the fat-soluble vitamins ( vitamin A , vitamin D , vitamin E, and vitamin K ). Similarly, linoleic acid supplements are recommended.
Prevention
To prevent intestinal symptoms, people with this syndrome should not eat triglycerideslong chain and should limit fat intake to 5 to 20 grams per day. The diet should not contain more than 140 grams (5 ounces) of lean meat, fish or poultry per day and, instead of whole milk, the use of skim milk is recommended. Since a certain amount of fat is needed for normal growth and development in all people, medium chain triglycerides are alternatively used as the major source of fat in the diet. The intestine absorbs these fats differently than most other fats, thus avoiding intestinal symptoms. Medium chain triglycerides are taken as a dietary supplement, particularly under the supervision of a physician or nutritionist, but should be used with caution as they can cause liver damage.