Abetalipoproteinemia May 2026

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

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

It is caused by mutations in the MTTP gene . Abetalipoproteinemia (ABL), also known as , is a

Chronic diarrhea, fatty or foul-smelling stools ( steatorrhea ), and failure to thrive (poor growth). 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: