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