General Condition Information
- 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
It is unknown how many babies are born with this rare condition each year in the United States.
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
Newborn screening for glutaric acidemia type II is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
During screening, a special machine measures how much of certain substances (called acylcarnitines) are in your baby’s blood. Your body produces these substances when it makes energy from fats. Babies with high levels of these substances might have glutaric acidemia type II.
If your baby’s blood spot screening result for glutaric acidemia type II is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result does not mean that your baby definitely has the condition. It does mean that your baby needs more follow-up testing. To learn more about screening results, visit the Blood Spot Screening Results page.
Your baby may need the following tests after an out-of-range screening result:
- Blood and/or urine tests
- Genetic testing using a blood sample
- Small skin sample
You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems soon after birth if they are not diagnosed and treated quickly.
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Signs of glutaric acidemia type II can vary widely and may appear anytime from right after birth to adulthood. They can be triggered by common illnesses (like a cold or flu) or a long time without food.
Signs of the condition may include the following:
Glutaric academia type II is caused by a change in the ETFA, ETFB, or ETFDH gene. These genes give the body instructions for making different enzymes that are needed for the body to be able to break down fats and proteins to make energy.
Without a working ETFA, ETFB, or ETFDH gene, your baby’s body cannot make enough normal copies of these enzymes. As a result, their body cannot properly break down proteins or fat to make energy and get rid of toxins.
- Glutaric acidemia type II is an autosomal recessive condition. Babies inherit the condition when each parent passes down the same nonworking gene that causes glutaric acidemia type II (ETFA, ETFB, or ETFDH) to their baby. Only babies with two matching nonworking genes—for example, one nonworking ETFA from the mom and one nonworking ETFA from the dad—have this condition. Babies with two nonworking genes that do not match—for example, one nonworking ETFA from the mom and one nonworking ETFB from the dad—will not have this condition.
- People with one working copy and one nonworking copy of the ETFA, ETFB, or ETFDH gene are called carriers.
- Carriers do not have or develop the condition. However, they may pass down a nonworking copy of the gene to their children.
- If two parents are carriers of a nonworking copy of the ETFA, ETFB, or ETFDH gene, they have a 1 in 4 chance of having a child with glutaric acidemia type II.
- Carriers for glutaric acidemia type II often do not know they are carriers before having a child with the condition. In most cases, families have no history of the condition until the birth of a child with glutaric acidemia type II.
- Parents who already have a child with glutaric acidemia type II still have a 1 in 4 chance of having another child with glutaric acidemia type II. This 1 in 4 chance stays the same for all future children.
- Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
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.