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Diseases » Abetalipoproteinemia » Glossary

Glossary for Abetalipoproteinemia

Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
Demyelination: is a destructive process of removal of myelin
Hypercholesterolemia: High levels of blood cholesterol, triglycerides, or other lipids.
Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
Malabsorption syndrome: is an alteration in the ability of the intestine to absorb nutrients adequately into the bloodstream
Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
Nystagmus: Involuntary jerky eye movements
Phytonadione - Teratogenic Agent: There is evidence to indicate that exposure to Phytonadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Retinitis Pigmentosa: Retinitis pigmentosa is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties that can lead to central vision loss.
Scoliosis: Sideways curvature of the spine
Steatorrhea: Foul-smelling bulky feces