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3-methylglutaconic aciduria

(3 • meth-uhl-gloo-tah-KAHN-ik • a-suh-DUR-ee-uh)

General Condition Information

Other Names

  • 3 methylglutaconyl CoA hydratase deficiency
  • 3-methyglutaconic aciduria
  • 3-methyl-glutaconyl coA hydratase deficiency
  • 3-methylglutaconic acidemia
  • 3-methylglutaconic acidemia, type 1
  • 3-methylglutaconyl CoA hydratase deficiency
  • 3-methylglutaconyl-CoA hydratase deficiency
  • 3-Methylglutaconyl-CoA Hydratase Deficiency Aciduria
  • 3-methylglutaconyl-CoA hydratase deficiency, Barth syndrome, Costeff syndrome

Condition Type

Birth Prevalence

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

Screening Finding

Elevated C5-OH acylcarnitine

What is 3-methylglutaconic aciduria

3-Methylglutaconic aciduria is caused by a group of inherited (genetic) conditions that prevent the body from making energy properly. There are five different types of 3-methylglutaconic aciduria that change the way the body makes energy. Each condition causes a buildup of an acid called 3-methylglutaconic acid in your baby’s body. When acid builds up in your urine, it is called aciduria.

Type I is also called 3-methylglutaconyl-CoA hydratase deficiency, named for the enzyme you need to process a part of proteins called leucine. When your baby cannot make enough working enzyme, toxins build up and can damage their brain and nerves.

Type II is also called Barth syndrome, named after the doctor who first described it. In Barth syndrome, the body is unable to make a protein called tafazzin properly. Tafazzin plays an important role in building your mitochondria, the parts of your cells that produce energy. When mitochondria do not work properly, the body has trouble making energy. Without enough energy, their heart and muscles get weak.

Type III is also called Costeff syndrome, also named after the doctor who first described it. In Costeff syndrome, the body is unable to make a protein called OPA3 properly. OPA3 is also found in the mitochondria. Not having enough working enzyme damages the eyes and brain.

Type IV does not have a defined cause. If your baby has 3-methylglutaconic aciduria and does not have Type I, II, III, or V, they will be considered Type IV.

Type V is also called dilated cardiomyopathy with ataxia (DCMA) syndrome. In DCMA syndrome, the body is unable to make a protein called DNAJC19 properly. DNAJC19 is found in the mitochondria as well. Not having enough working enzyme damages your heart and brain. 

A lack of energy and increased toxins leads to the wide range of signs and symptoms of these conditions.

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. Treatment will depend on the type of 3-methylglutaconic aciduria your baby has. The goal of treatment is to prevent the health problems caused by these conditions.

Treatments may include the following:

  • Regular visits with a heart doctor (cardiologist)
  • Regular visits with an eye doctor (ophthalmologist)
  • L-carnitine supplementation
  • Antibiotics

Children who receive early and ongoing treatment specific for their type of 3-methylglutaconic aciduria can live longer than untreated children.

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