Bassen-Kornzweig syndrome

Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a disease characterized by the body's inability to fully absorb dietary fats. This normally results in the affected person being extremely thin, and is normally, if untreated, fatal. It is usually diagnosed in infancy, and sometimes can develop later in life. The syndrome causes the body not to make lipoproteins, including low-density lipoproteins, very-low-density lipoproteins, and chylomicrons. It is an autosomal recessive inherited disorder, which affects both sexes. It predominantly affects males. It is caused by mutations in the genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP).

Symptoms
Often symptoms will arise that indicate the body is not absorbing or making the lipoproteins that it needs. These symptoms usually appear en masse, meaning that they happen all together, all the time. These symptoms come as follows:
 * Failure to grow in infancy
 * Fatty, pale stools
 * Frothy stools
 * Foul smelling stools
 * Protruding abdomen
 * Mental retardation/developmental delay
 * Dyspraxia, evident by age ten
 * Muscle weakness
 * Slurred speech
 * Scoliosis (curvature of the spine)
 * Progressive decreased vision
 * Balance and coordination problems

Treatment
Treatment normally consists of rigorous dieting, involving mass amounts of vitamin E. Vitamin E helps the body restore and produce lipoproteins, which people with abetalipoprotenimia usually lack. Vitamin E also helps keep skin and eyes healthy, which studies show that many males whom are affected will have vision problems later on in life. Dyspraxia and muscle weakness is usually combated with psysiotherapy, or occupational therapy.