Abetalipoproteinemia Online

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

Progressive vision loss and night blindness due to retinitis pigmentosa . 🧪 Diagnosis Doctors use several methods to confirm ABL: Abetalipoproteinemia - StatPearls - NCBI Bookshelf 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 .

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: