Clinical Presentation

Children with DGAT1 deficiency generally present with a watery diarrhea that develops shortly after birth and progresses to a clinical syndrome that includes dehydration and malnutrition. Laboratory evaluation often reveals hypoalbuminemia, hypogammaglobulinemia, elevated stool alpha-1-antitrypsin, variable deficiencies of iron, vitamins A, D, E and K, and essential fatty acid deficiencies. Patients may also have anemia, elevated triglyceride levels, elevated fecal fat, and deficiencies of zinc and copper. The symptoms range in severity and early recognition is crucial to preventing long-term complications. Some children have required parenteral nutrition and others have achieved adequate control of diarrhea and sufficient intake of macronutrients and vitamins through modification of diet, specifically the composition of fat intake.

DGAT1 deficiency is rare but should be considered in any patient with a congenital diarrheal disorder, particularly with hypoalbuminemia.

Characteristic Features:
  • Watery diarrhea
  • Protein-losing enteropathy
  • Malnutrition
Characteristic Lab Values:
  • Elevated stool alpha-1-antitrypsin
  • Low albumin
  • Low iron
  • Low Vitamin A, D, E and K
  • Essential fatty acid deficiency
  • Low immunoglobulins (IgG, IgA, IgM, IgE)
  • Low hemoglobin
  • Elevated serum triglyceride
  • Elevated fecal fat
  • Low zinc, copper
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