Abetalipoproteinemia Apr 2026

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

It is caused by mutations in the MTTP gene . abetalipoproteinemia

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 Progressive vision loss and night blindness due to

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

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 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: