Abetalipoproteinemia Link

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

It is caused by mutations in the MTTP gene . abetalipoproteinemia

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. Abetalipoproteinemia (ABL), also known as , is a

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

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: