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Glutaric acidemia type II

(gloo-TAR-ik • A-suh-DEE-mee-uh • type • 2)

General Condition Information

Other Names

  • Glutaric acidemia
  • Glutaric acidemia type 2
  • Glutaric acidemia type II, Multiple acyl-CoA dehydrogenase deficiency
  • Glutaric acidemia, type 2
  • Glutaric acidemia, type II
  • Glutaric aciduria, type 2/Multiple acyl-CoA dehydrogenase deficiency
  • Multiple acyl coA dehydrogenase deficiency (glutaric aciduria II)
  • Multiple acyl-CoA dehydrogenase deficiency
  • Multiple acyl-CoA dehydrogenase deficiency (MADD), glutaric acidemia type II

Condition Type

Birth Prevalence

It is unknown how many babies are born with this rare condition each year in the United States.

Screening Finding

High levels of C4, C5, and other acylcarnitines

What is Glutaric acidemia type II

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

Certain enzymes in your body break down fats and proteins so your body can use or dispose of them. If your baby does not have enough working enzymes, their body has trouble with this process. This condition can be more or less severe depending on how much working enzyme your baby's body can make.

Breaking down fats and proteins for energy allows your body to work properly, and it is especially important after a long time without food (fasting) and during illness. If your body does not make enough energy, blood sugar levels can become dangerously low.

When fats and proteins are not processed, waste can build up, including toxins. In acidemia conditions, these toxins build up and make your body acidic. If untreated, the lack of energy and increased toxins leads to the signs and symptoms of the condition.

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:

  • Regular and frequent meals and snacks
  • Diet high in carbohydrates and low in fat
  • L-carnitine supplements to help the body break down fats (in some cases)
  • Riboflavin (vitamin B-2) supplements (in some cases)
  • Glycine supplements (in some cases)

Children who receive early and ongoing treatment for glutaric acidemia type II can have healthy growth and development. Treatments are not always successful in people with glutaric acidemia type II. Even with treatment, some people with glutaric acidemia type II may still experience learning disabilities. In very severe forms, treatment may not be able to help, especially if there are heart problems.

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