This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties. The long-term outcome can be difficult to predict. Abetalipoproteinemia is diagnosed based on clinical exam, laboratory tests showing abnormally low cholesterol, and confirmed by genetic testing. This condition is caused by genetic variants in the MTTP gene and is inherited in an autosomal recessive pattern. This condition has been treated with a low fat diet and vitamin supplements. Most people with abetalipoproteinemia who are treated do not develop complications.
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