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What is TTC7A deficiency?

TTC7A deficiency is a rare genetic disease that causes diarrhea, inflammation of the intestines, bowel obstructions, immune dysfunction, and an inability to absorb nutrients. It usually starts soon after birth and is one of a group of disorders termed congenital diarrheas.

Symptoms & Causes

What are the symptoms of TTC7A deficiency?

Your child may have one or more intestinal and immune symptoms of TTC7A deficiency, which can vary in severity. These are typically grouped into three clinical conditions:

These conditions can cause symptoms such as:

  • Abdominal pain
  • Watery/bloody diarrhea
  • Bowel obstructions
  • Increased number of infections

Children with TTC7A deficiency may also have conditions affecting their hair, skin, teeth, nails, and liver function.

What causes TTC7A deficiency?

TTC7A deficiency is a genetic disorder caused by dysfunction of a gene (TTC7A). For a child to have TTC7A deficiency they must inherit two dysfunctional TTC7A genes, one from each parent.

Diagnosis & Treatments

How is TTC7A deficiency diagnosed?

Testing for TTC7A deficiency involves a number of steps. If your child’s doctor suspects that they have congenital diarrhea, they will need to look at a sample tissue from 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).

Your child’s care team can only make an official diagnosis of TTC7A deficiency by performing genetic testing.

How is TTC7A deficiency treated?

There is currently no cure for TTC7A deficiency. Treatment focuses on controlling your child’s symptoms and optimizing their nutrition. Some of these treatments include:

  • Parenteral nutrition to ensure your child receives necessary nutrients
  • Medications such as immunosuppressives, steroids, and antibody therapies to treat intestinal inflammation
  • Surgery to remove bowel obstructions
  • Bone marrow transplant to improve immune function

How we care for TTC7A deficiency

The Division of Gastroenterology, Hepatology and Nutrition at Boston Children’s Hospital specializes in diagnosing and treating children with complex intestinal disorders including TTC7A deficiency. Our team works closely with multiple specialties, including the Home Parenteral Nutrition Program, Immunology Program, and surgeons to provide expert, family centered care for infants, children, and adolescents with TTC7A deficiency.