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Age = Child
Cause = Genetic: autosomal Recessive
Commonality is rare
Incidence is approximately 1 in 70,000,000 people
Level of Evidence: Moderate level of evidence
Abetalipoproteinemia (also known as Bassen-Kornzweig syndrome) is a recessive disorder that impedes the digestion of dietary fats, cholesterol and fat-soluble vitamins. Patients affected by the condition are unable to produce certain lipoproteins and fats, leading to deficiencies of the fat-soluble vitamins A, D, E and K.
This disorder is linked to a mutation in the microsomal triglyceride transfer protein (MTTP) gene, which provides instructions for the production of a protein imperative to the creation of lipoproteins. These lipoproteins are, in turn, essential for the absorption of fats, cholesterol and fat-soluble vitamins from food, and the transport of these nutrients to the bloodstream.
Symptoms and diagnosis
The symptoms of abetalipoproteinemia appear in early childhood, and will indicate that the body is not making or absorbing the nutrients that it requires. These include:
· Failure to gain weight and grow in infancy;
· Pale, foul-smelling, fatty stools; and
· Presence of fat and/or blood in stools.
Other symptoms will result from a severe vitamin deficiency, such as:
· Poor muscle coordination;
· Degeneration of the retina, leading to near-blindness;
· Developmental delay or mental retardation; and
· Scoliosis (curvature) of the spine.
Abetalipoproteinemia can be clinically diagnosed by the analysis and subsequent detection of fat in foul-smelling stools. Similarly, a deficiency of the affected nutrients in the bloodstream can also be used as an indicator.
Treatment for abetalipoproteinemia typically involves a controlled diet including high levels of vitamin E. This helps the body to produce and restore other missing nutrients, such lipoproteins.