Also known as:
- glutaric aciduria type II
- electron transfer flavoprotein deficiency
- EMA, ETFA deficiency
- ETFB deficiency
- ETFDH deficiency
- multiple acyl-CoA dehydrogenase deficiency
- multiple FAD dehydrogenase deficiency
Glutaric acidemia, type II (GA-2) is a condition in which the body is unable to break down certain fats and proteins. It is considered a fatty acid oxidation condition because people affected with GA-2 are unable to convert some of the fats and proteins they eat into energy the body needs to function. This causes too many unused fatty acids and other harmful substances to build up in the body. GA-2 can cause weak muscle tone, severe heart problems, and death. For some individuals with GA-2, detecting it early and beginning treatment may help to prevent some of the severe health outcomes associated with the condition.
GA-2 is a different condition from glutaric acidemia type I. You can also learn about the detection, causes, and treatment on the condition page for glutaric acidemia type I.
Your baby’s doctor may ask you if your baby is showing any of the signs of GA-2 (see Early Signs below). If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment.
If your baby’s newborn screening result for glutaric acidemia, type II (GA-2) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, as a few babies do have the condition, it is very important that you go to your follow-up appointment for a confirmatory test. Because the harmful effects of untreated GA-2 can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has the condition.
Follow-up testing will involve checking your baby’s urine and blood samples for harmful amounts of acids and toxins. Certain acids and toxins build up in the body when a child has a fatty acid oxidation condition, so studying the amounts of these substances in your baby’s body can help doctors determine if your baby has a condition. The presence of multiple acylcarnitines with chain lengths of C4, C5 and higher in the blood and certain organic acids in the urine might indicate that your child has GA-2. Sometimes follow-up testing may also include testing a very small sample of skin.
About Glutaric acidemia, type II
Signs of glutaric acidemia, type II (GA-2) can begin shortly after birth, in childhood, or even adulthood. Signs of GA-2 include:
- Sleeping longer or more often
- Behavior changes
- Weak muscle tone (known as hypotonia)
- Poor appetite
- Low blood sugar (called hypoglycemia)
- Trouble breathing
- A “sweaty feet” smell
- Seizures (epilepsy)
- Birth defects
Many of these signs may occur when your baby eats foods that his or her body cannot break down. They can be triggered by long periods of time without eating, illnesses, and infections.
If your baby shows any of these signs, be sure to contact your baby’s doctor immediately.
Your baby may need to be on a restricted diet in order to avoid certain foods that his or her body cannot break down. A dietician or a nutritionist can help you plan a healthy diet for your child.
Eating often can also help your baby avoid many of the signs mentioned in the Early Signs section.
Supplements and Medications
Some children with glutaric acidemia, type II (GA-2) take prescription L-carnitine supplements. L-carnitine is a substance naturally produced by the body, but your child’s body might not make enough of it. Taking L-carnitine supplements can help the body break down fat for energy and get rid of harmful substances in the body. Your baby’s doctor will need to write a prescription for these supplements.
Your baby’s doctor might also prescribe riboflavin (a vitamin) or glycine (a building block of proteins) supplements.
Children and adults who receive treatment for glutaric acidemia, type II (GA-2) can lead healthy lives. Some children who receive treatment may still experience some learning disabilities.
Without treatment, children and adults with GA-2 are at risk of liver damage, heart trouble, or brain damage.
Treatment may not be effective for some newborns with GA-2. There have been few reported cases of successful GA-2 treatment in newborns. Most babies affected with GA-2 die in the first few months of life from heart problems.
When we eat food, enzymes help break it down. Some enzymes break down fats into their building blocks, called fatty acids. Some enzymes break down amino acids into their building blocks, called amino acids. Other enzymes break down these fatty acids and amino acids for energy.
The enzymes electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF:QO) help break down fats and proteins for energy.
In glutaric acidemia, type II, (GA-2) one of these enzymes is not working correctly. Only one of the two enzymes needs to be non-working for your baby to have GA-2, but it could be either one. If you baby has GA-2, his or her body either makes non-working or does not make enough of ETF or ETF:QO.
Fatty acids are an important source of energy for the heart, especially when sugar levels are low (such as between meals). When your baby’s body cannot break down fats and proteins correctly, harmful substances like glutaric acid build up in the body. Everyone has some acid in their blood, but high levels can be toxic.
GA-2 is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for GA-2, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with GA-2 is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.
Support for Glutaric acidemia, type II
Support groups can help connect families who have a child or other family member affected with glutaric acidemia, type 2 with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for affected individuals and their families, as well as health care providers.
Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a doctor who specializes in metabolism, a dietician who can help plan your child’s specialized diet, and other medical resources in your community. Depending on the signs and symptoms your baby experiences, your baby’s doctor may work with other doctors who specialize in treating the heart or the liver. Some children with glutaric acidemia, type 2 (GA-2) have developmental delays. If you think that your baby is not meeting his or her developmental milestones, ask your baby's health care provider about the next steps in accessing a developmental evaluation and care.
Because GA-2 is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for GA-2, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good places for you or your baby's health care provider to use to identify local specialists.
Maclin is a young boy with glutaric acidemia, type II (GA-2). After years of unexplained seizures, Maclin was diagnosed with GA-2 and promptly began treatment. Now, he is an active and much healthier boy. Maclin’s father, Dave, spoke at the Mitochondrial Research Guild’s Cure for Mito Auction. Read Dave’s speech about his son on the Mitochondrial Research Guild’s website.
States Screening for Glutaric acidemia, type II
|State||Screens for this condition?|
|District of Columbia||Yes|
|U.S. Virgin Islands||Yes|