Glutaric Acidemia, Type I (GA1)
Glutaric acidemia, type I (GA1) is an inborn error of metabolism, an inherited condition in which an enzyme, glutaryl-CoA dehydrogenase, in the body is either missing or not working well. The job of this enzyme is to help break down certain amino acids (parts of protein). GA1 is an organic acid condition because it can lead to the build-up of a harmful amount of organic acids and toxins in the body. Symptoms of GA1 can vary and may include a large head size, vomiting, extreme tiredness/lethargy, changes in muscle tone, spasms, uncontrollable movements, swelling of the brain, build-up of blood in the brain, damage to the brain including the part of the brain that helps to control movement, and/or other potential signs and symptoms. GA1 can be a life-threatening condition. Illnesses, infections and fever are some examples of circumstances that could also trigger symptoms of GA1. Management often includes a special diet and medication/supplements, other special precautions and emergency management recommendations. Early detection and intervention can benefit children with this condition. Support groups are available to help connect families living with GA1 with others who have experience or expertise with this condition.
For more information about Glutaric acidemia type I, visit Baby's First Test: Glutaric acidemia type I and Screening, Technology, and Research in Genetics (STAR-G): Glutaric acidemia, type 1. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.