What genetic condition is characterized by a deficiency in ApoB lipoproteins?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Abetalipoproteinemia is characterized by a deficiency in apolipoprotein B (ApoB), which is essential for the formation of chylomicrons and very low-density lipoproteins (VLDL). This genetic condition leads to impaired lipid absorption in the intestines and abnormal lipid metabolism, resulting in a lack of ApoB-containing lipoproteins in the bloodstream.

In individuals with abetalipoproteinemia, the deficiency of ApoB hinders the transport of dietary lipids and the metabolism of circulating triglycerides and cholesterol, leading to symptoms such as failure to thrive, steatorrhea (excess fat in stools), and neurological issues due to fat-soluble vitamin deficiencies.

Understanding the role of ApoB is crucial in this context, as it serves as a structural protein for these lipoproteins. This deficiency can also result in the accumulation of lipids within the enterocytes, causing enterocyte degeneration and ultimately affecting nutrient absorption.

The other conditions mentioned, such as familial hypercholesterolemia and familial dysbetalipoproteinemia, are associated with different pathogenic mechanisms and abnormalities in lipid metabolism, but they do not involve a deficiency of ApoB. Familial hypertriglyceridemia also does not directly

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