Identification of a novel MTTP splice variant c.394-2A>C in an infant with abetalipoproteinemia

Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder of lipoprotein metabolism caused by mutations in the microsomal triglyceride transfer protein (MTTP) gene. To date, less than 100 cases of ABL have been reported worldwide. It is characterized biochemically by the absence or extremely low levels of low-density lipoproteins in the blood. We report a four-month-old girl, born to consanguineous parents, who presented with steatorrhea, failure to thrive, marked hypolipidemia and acanthocytosis