Apolipoprotein B deficiency
Apolipoprotein B deficiency
Apolipoprotein B deficiency (pronunciation: a-po-li-po-pro-tein B de-fi-cien-cy) is a rare genetic disorder characterized by low levels of Apolipoprotein B (ApoB) in the body.
Etymology
The term "Apolipoprotein B deficiency" is derived from the Greek words "apo" (away from), "lipos" (fat), "protein", and "deficiency". It refers to the lack of Apolipoprotein B, a protein that plays a crucial role in fat metabolism.
Definition
Apolipoprotein B deficiency is a condition that impairs the body's ability to absorb and transport fats and cholesterol. This deficiency is caused by mutations in the APOB gene, which provides instructions for making Apolipoprotein B.
Symptoms
The symptoms of Apolipoprotein B deficiency include malabsorption, failure to thrive, and neurological symptoms such as ataxia and retinitis pigmentosa.
Diagnosis
Diagnosis of Apolipoprotein B deficiency is based on clinical symptoms, blood tests showing low levels of Apolipoprotein B, and genetic testing confirming mutations in the APOB gene.
Treatment
Treatment for Apolipoprotein B deficiency involves dietary modifications to manage malabsorption and nutritional supplementation to address deficiencies.
Related Terms
External links
- Medical encyclopedia article on Apolipoprotein B deficiency
- Wikipedia's article - Apolipoprotein B deficiency
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