Abetalipoproteinemia [2026]
Abnormally star-shaped red blood cells called acanthocytes and a low red blood cell count (anemia).
Loss of deep tendon reflexes, tremors, muscle weakness, and difficulty with balance and coordination ( ataxia ). abetalipoproteinemia
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: abetalipoproteinemia
Chronic diarrhea, fatty or foul-smelling stools ( steatorrhea ), and failure to thrive (poor growth). abetalipoproteinemia
It is caused by mutations in the MTTP gene .
