Definition:
Abetalipoproteinemia is a rare hereditary disorder that hinders regular absorption of fact from digested food. Patients with the disease lack the vitamins A, D, E and K.
Diagnosis:
The disease can be diagnosed by the presence of the symptoms, MRI and genetic testing.
Treatment:
Treatment for the disease includes proper diet, high amounts of vitamin E, and occupational therapy. Vitamin E helps a lot in restoring lost lipoproteins that are usually missing in people with abetalipoprotenimia.
Symptoms and Signs:
The signs of the disorder include failure to thrive, star-shaped red blood cells, as well as fatty, foul-smelling stools. These symptoms can cause extreme pain on the infant, and may as well lead to problems with the central nervous system.
Causes:
Abetalipoproteinemia is an autosomal recessive disorder.
