Abetalipoproteinemia Apr 2026

It is caused by mutations in the MTTP gene .

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

Chronic diarrhea, fatty or foul-smelling stools ( steatorrhea ), and failure to thrive (poor growth). It is caused by mutations in the MTTP gene

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. also known as