3-methylglutaconic aciduria, type III

Diagnosis and Testing

How do I get tested for 3-methylglutaconic aciduria type 3?

First, your doctor may order a test on your urine (pee) to look for 2 molecules called 3-methylglutaconic acid and 3-methylglutaric acid. These molecules are high in the urine of people with 3-methylglutaconic aciduria type 3. If these molecules are high in your urine, your doctor can then order genetic testing to look at the OPA3 gene. If a change is found in both of your copies of OPA3, you will be diagnosed with 3-methylglutaconic aciduria type 3. If the molecules are not high in your urine but your doctor still thinks it is 3-methylglutaconic aciduria type 3, he/she might order genetic testing anyways.

References
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Is there newborn testing for 3-methylglutaconic aciduria type 3?

Is there more than one test for 3-methylglutaconic aciduria type 3?

Who else in my family should I test for 3-methylglutaconic aciduria type 3?

Is there prenatal testing for 3-methylglutaconic aciduria type 3?

What tests should be done after a diagnosis of 3-methylglutaconic aciduria type 3?

Is there newborn testing for 3-methylglutaconic aciduria type 3?

As of April 2019, there is routine newborn screening for 3-methylglutaconic aciduria type 3 in some states. If you live in a state where this testing is performed at birth and your newborn screens positive, your baby will need further testing to find out if he/she actually has 3-methylglutaconic aciduria type 3. See www.babysfirsttest.org to see if you live in a state that tests for this condition in newborns. If you do not live in a state with 3-methylglutaconic aciduria type 3 on the screening panel and if the baby is known to be at risk for 3-methylglutaconic aciduria type 3, the parents might request testing for the baby at birth.

Is there more than one test for 3-methylglutaconic aciduria type 3?

There are a few tests that can be used in the diagnosis of 3-methylglutaconic aciduria type 3. First is the urine test to see if the person has high levels of 3-methlyglutaconic acid and 3-methlyglutaric acid. Then there is the genetic testing. For genetic testing, there are a few ways that this can be done. First, the genetic test can be targeted to look for a single genetic change (called c.143-1G>C) that has been found in all Iraqi Jewish people with 3-methylglutaconic aciduria type 3. This is called "targeted mutation analysis". Second, the OPA3 gene could be read letter by letter from start to finish to look at any change in the gene. This is called "sequencing". Finally, a test can look for big pieces of extra of missing genetic material in and around the OPA3 gene. This is called "deletion/duplication" testing.

References
Who else in my family should I test for 3-methylglutaconic aciduria type 3?

Individuals who should be tested for 3-methylglutaconic aciduria type 3 include siblings of the person in the family identified with the condition.

Parents of the person diagnosed with 3-methylglutaconic aciduria type 3 are obligate carriers - they will have one OPA3 gene that has a mutation/change that causes 3-methylglutaconic aciduria type 3. They may want to have testing to inform their family members (blood relatives) who are also at risk of being a carrier for this condition. This can help for their future family planning in addition to their relative's family planning.

References
Is there prenatal testing for 3-methylglutaconic aciduria type 3?

Prenatal testing for 3-methylglutaconic aciduria type 3 is available to families where the couple are known to be carriers of the condition and the OPA3 gene changes are known.

Prenatal testing can be done between 11 and 13 weeks gestation by means of chorionic villus sampling (a sample of the placenta is taken out with a needle) or by amniocentesis (a sample of the fluid around the baby is taken out with the needle) The baby's (fetal) cells can then be tested for genetic changes (mutations) in the OPA3 gene.

References
What tests should be done after a diagnosis of 3-methylglutaconic aciduria type 3?

There are a few tests may be recommended after a person is diagnosed with 3-methylglutaconic aciduria type 3, including:

  • Complete eye examination
  • Complete neurologic (brain function) examination
  • Developmental and educational assessment
  • Echocardiogram (ultrasound of the heart)
  • Medical Geneticist evaluation
  • Genetic testing, if it hasn't already been done
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