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ABETALIPOPROTEINEMIA & TREATMENT

Read about abetalipoproteinemia medical facts: what is the definition of abetalipoproteinemia, what are the signs and symptoms, medical treatment & how to treat abetalipoproteinemia, information about the causes, diagnosis, and related abetalipoproteinemia diseases.

Definition: What is "Abetalipoproteinemia"?

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.

Causes

Abetalipoproteinemia is an autosomal recessive disorder.

Diagnosis

The disease can be diagnosed by the presence of the symptoms, MRI & genetic testing.



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