Abetalipoproteinemia
Abetalipoproteinemia Causes
Abetalipoproteinemia is an autosomal recessive disorder.
Abetalipoproteinemia 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.
Abetalipoproteinemia Diagnosis
The disease can be diagnosed by the presence of the symptoms, MRI and genetic testing.
Abetalipoproteinemia 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.
Abetalipoproteinemia 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.