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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glutaric acidemia type I


Other Names for this Disease
  • Glutaric acidemia type 1
  • Glutaric acidemia 1
  • Glutaric aciduria 1
  • GA 1
  • Glutaryl-CoA dehydrogenase deficiency
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Your Question

I know that a large head can be a trait of this. I have also heard that a lot of the kids have a higher IQ. Are there any other traits? Is there anything about strong stomach acid or high acidity?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are the signs and symptoms of glutaric acidemia type 1?

The specific symptoms and severity in people with glutaric acidemia type 1 (GA1) can vary widely. Some people are mildly affected, while others have severe problems. Signs and symptoms usually first occur in infancy or early childhood, but sometimes symptoms begin in adolescence or adulthood.

Some infants with GA1 have a large head circumference (macrocephaly). Other features that may occur in affected people include difficulty moving; experiencing spasms, jerking, rigidity, or decreased muscle tone; and intellectual disability. Stress on the body (such as infection and fever) can cause worsening of symptoms.[1]
Last updated: 4/29/2015

Can glutaric acidemia type 1 cause stomach issues, such as high acidity?

People with glutaric acidemia type 1 are prone to develop pancreatitis.[2] Pancreatitis is inflammation of the pancreas. The pancreas is a large gland behind the stomach and close to the first part of the small intestine. It secretes digestive juices into the small intestine through a tube called the pancreatic duct. The pancreas also releases the hormones insulin and glucagon into the bloodstream. Pancreatitis can be acute (sudden severe onset) or chronic. Either form is serious and can lead to complications. Common symptoms are severe pain in the upper abdomen, nausea, and vomiting.[3] For more information on pancreatitis, visit MedlinePlus.gov at the following link:
http://www.nlm.nih.gov/medlineplus/pancreatitis.html
Last updated: 3/5/2014

References
Other Names for this Disease
  • Glutaric acidemia type 1
  • Glutaric acidemia 1
  • Glutaric aciduria 1
  • GA 1
  • Glutaryl-CoA dehydrogenase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.