Abetalipoproteinemia

Below you will find more information about Abetalipoproteinemia from Medigest. If you believe that you are suffering from any of the symptoms of Abetalipoproteinemia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Abetalipoproteinemia and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Abetalipoproteinemia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

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