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.

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Carrier Frequency by Ethnicity >