Symptoms & Diagnosis

Symptoms

Children who have a deficiency in the enzyme DGAT1 usually develop symptoms in the first week of life. They experience diarrhea, do not absorb fat, and do not gain weight. The diagnosis is made by a genetic test , but the diagnosis can be suspected if the stool contains an increased amount of protein and/or fat. Low red blood cells, elevated fat (triglycerides) in the blood and a decrease in some minerals might also be found.

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Diagnosis

The diagnosis is made by sending blood or amniotic fluid for testing for the DGAT1 gene. Laboratories that can do this testing are listed in our resources section.