ABETALIPOPROTEINEMIA & TREATMENT
Definition: What is "Abetalipoproteinemia"?
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 & K.
Symptoms & 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 & may as well lead to problems with the central nervous system.
Treatment: How to Treat "Abetalipoproteinemia"?
Treatment for the disease includes proper diet, high amounts of vitamin E & occupational therapy. Vitamin E helps a lot in restoring lost lipoproteins that are usually missing in people with abetalipoprotenimia.
Abetalipoproteinemia is an autosomal recessive disorder.
The disease can be diagnosed by the presence of the symptoms, MRI & genetic testing.