Abetalipoproteinemia Review

It is caused by mutations in the MTTP gene .

Loss of deep tendon reflexes, tremors, muscle weakness, and difficulty with balance and coordination ( ataxia ).

Abetalipoproteinemia (ABL), also known as , is a rare genetic disorder that prevents the body from properly absorbing dietary fats, cholesterol, and fat-soluble vitamins . 🧬 Causes and Inheritance abetalipoproteinemia

It follows an autosomal recessive pattern, meaning a child must inherit a mutated gene from both parents to develop the condition. ⚠️ Hallmark Symptoms Symptoms usually begin in infancy and often include:

This gene provides instructions for the microsomal triglyceride transfer protein ( MTP ), which is essential for creating beta-lipoproteins (like LDL and VLDL) that transport fats and vitamins through the blood. It is caused by mutations in the MTTP gene

Progressive vision loss and night blindness due to retinitis pigmentosa . 🧪 Diagnosis Doctors use several methods to confirm ABL: Abetalipoproteinemia - StatPearls - NCBI Bookshelf

Chronic diarrhea, fatty or foul-smelling stools ( steatorrhea ), and failure to thrive (poor growth). 🧬 Causes and Inheritance It follows an autosomal

Abnormally star-shaped red blood cells called acanthocytes and a low red blood cell count (anemia).