| A rare genetic intestinal disease characterized by early-onset chronic non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy, which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. |
