Abetalipoproteinemia -

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

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

Chronic diarrhea, fatty or foul-smelling stools ( steatorrhea ), and failure to thrive (poor growth). 🧪 Diagnosis Doctors use several methods to confirm

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

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.