It is caused by mutations in the MTTP gene .
Progressive vision loss and night blindness due to retinitis pigmentosa . 🧪 Diagnosis Doctors use several methods to confirm ABL: Abetalipoproteinemia - StatPearls - NCBI Bookshelf abetalipoproteinemia
Abnormally star-shaped red blood cells called acanthocytes and a low red blood cell count (anemia). 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. abetalipoproteinemia
