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Glutaric acidemia type I

(gloo-TAIR-ik • A-suh-DEE-mee-uh • type • 1)

General Condition Information

Other Names

  • Glutaric acidemia
  • Glutaric acidemia type 1
  • Glutaric Acidemia Type I
  • Glutaric Acidemia, Type 1
  • Glutaric acidemia, type I
  • Glutaric Aciduria Type I
  • Glutaric aciduria, type 1

Condition Type

Birth Prevalence

  • It is estimated that 1 in 100,000 babies are born with this condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

High levels of C5-DC acylcarnitine

What is glutaric acidemia type i

Glutaric acidemia type I is an inherited (genetic) condition that prevents the body from breaking down certain proteins properly.

“Glutaryl-CoA dehydrogenase” is an enzyme that helps you digest parts of certain proteins called lysine, hydroxylysine, and tryptophan. The enzyme breaks these parts into smaller pieces that your body can either use or remove.

If your baby’s glutaryl-Co-A dehydrogenase enzyme is not working well, their body has trouble breaking down proteins that have lysine, hydroxylysine, or tryptophan. Waste (including toxins) can build up in their body and damage your baby’s tissues and organs, especially the brain. When these toxins are acids, blood can become acidic (acidemia).

If untreated, this damage leads to the signs and symptoms of the condition. In severe cases, this condition can result in coma, brain damage, or death unless treated early.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

  • Diet of special formulas or foods 
  • Riboflavin (vitamin B-2) supplements (in some cases)
  • L-carnitine supplements (in some cases)
  • People with glutaric acidemia type I must be very careful during illnesses that cause poor appetite, vomiting, or diarrhea. During these illnesses, people with this condition may need emergency care and intravenous (IV) treatments.

Children who receive early and ongoing treatment for glutaric acidemia type I can have healthy growth and development.

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