Abetalipoproteinemia

Abetalipoproteinemia [MTTP]: Severe malabsorption of dietary fats and fat-solublevitamins causing failure to thrive, diarrhea, blood abnormalities (acanthocytosis), and stool abnormalities (steatorrhea). Symptoms arising later in childhood include poor muscle coordination, ataxia, and retinitis pigmentosa.

Ashkenazi Jewish Carrier Frequency: 1 in 186