Abetalipoproteinemia Link
Abnormally star-shaped red blood cells called acanthocytes and a low red blood cell count (anemia).
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). Progressive vision loss and night blindness due to
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
Loss of deep tendon reflexes, tremors, muscle weakness, and difficulty with balance and coordination ( ataxia ).
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 is caused by mutations in the MTTP gene .
