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.
DGAT-1 Deficiency | Programs & Services
Departments
Gastroenterology, Hepatology and Nutrition
Department
The Division of Gastroenterology, Hepatology and Nutrition offers care for children with GI, liver, and nutritional problems.
Programs
Congenital Enteropathy Program
Program
The Congenital Enteropathy Program is one of the few centers in the world that specializes in congenital diarrhea.