DGAT-1 Deficiency

What is DGAT-1 deficiency?

DGAT-1 deficiency is a rare genetic disease. If not treated, it can cause diarrhea, an inability to absorb nutrients, and poor growth. The condition usually starts soon after birth and is one of a group of disorders termed congenital diarrheas.

DGAT-1 (diacylglycerol-acyltransferase 1) is a protein that helps the body produce certain fats in the intestine called triglycerides. If the DGAT-1 protein malfunctions or is absent, symptoms can occur.

What are the symptoms of DGAT-1 deficiency?

A child with DGAT-1 deficiency will have symptoms within the first few weeks of life. These include:

• diarrhea
• poor absorption of fats
• low levels of vitamins that depend on fat absorption

The diarrhea ultimately leads to poor nutrition and poor growth.

What causes DGAT-1 deficiency?

DGAT-1 deficiency is inherited. It is caused by dysfunction of two DGAT-1 genes, one from each parent.

How is DGAT-1 deficiency diagnosed?

Testing for DGAT-1 deficiency involves a number of steps. First, your child’s doctors will perform tests to determine the kind of diarrhea involved and which nutrients your child cannot absorb. If they suspect a type of congenital diarrhea, they will need to look at a sample of the tissue in the small intestine. To do this they will need to perform a procedure called an endoscopy, which uses a small flexible tube to look at the intestine and obtain tiny tissue samples (biopsies).

In addition to these tests, doctors will perform genetic testing to confirm a diagnosis of DGAT-1 deficiency.

How is DGAT-1 deficiency treated?

DGAT-1 deficiency is treated by a very-low-fat diet. Your child will be followed closely by a dietitian and gastroenterologist to monitor their growth and potential nutritional and essential fatty acid deficiencies.

How we care for DGAT-1 deficiency

The Congenital Enteropathy Program at Boston Children’s Hospital specializes in diagnosing and treating children with complex intestinal disorders, including DGAT-1 deficiency. Our team works closely with multiple specialties, including the Nutrition Center, to provide expert, family centered care for infants, children, and adolescents.