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.
DGAT-1 Deficiency | Symptoms & Causes
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:
- 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.
DGAT-1 Deficiency | Diagnosis & Treatments
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.