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Summary of Abetalipoproteinemia
Abetalipoproteinemia is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.




Cardiovascular system

Vascular disorders
Congenital heart defects
Cardiac arrhythmias
Valvular disorders
Heart failure
Cardiac infections
Pericardial disorders
Cardiac tumors
Cardiovascular system pathology review



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High Yield Notes
7 pages


10 flashcards

USMLE® Step 1 style questions USMLE

1 questions

 A 52-year-old woman comes to the office for an evaluation of night vision loss. For the past 3 months, she has complained about a progressive loss of her visual acuity. Her medical history is relevant for conjunctival xerosis. She denies any other additional symptoms, with the exception of occasional episodes of bulky and foul-smelling stools that are difficult to flush. When asking the patient to stand up to perform the physical exam, her gait is wide-based. Neurological exam shows positive Romberg test and a complete loss of deep tendon reflexes. Her temperature is 36.1°C (96.9°F), pulse is 74/min, respirations are 17/min, and blood pressure is 110/80 mmHg. A lipid panel shows decreased triglycerides and total cholesterol. A peripheral blood smear reveals the presence of "star-like" red blood cells. This patient is at increased risk for developing which of the following as a result of her condition?    

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