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Abetalipoproteinemia

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.

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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

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Abetalipoproteinemia

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High Yield Notes
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Abetalipoproteinemia

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Abetalipoproteinemia is an autosomal (recessive/dominant) disorder.

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USMLE® Step 1 style questions USMLE

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 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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