WHAT IS GLUTARIC ACIDEMIA? 

Glutaric Acidemia is a genetically inherited disease, also called Glutaric Aciduria, which causes brain damage in infants and young children.  There is a type I and Type II (groups of 45 known variations) which are diagnosed by a urine test for the presence of Glutaric acid. It is not yet known how or why the Glutaric Acid causes brain damage. A child may have GA and never know it if he/she normally eats a low protein diet and is relatively free from colds and other common childhood illnesses.  All too commonly, however, the child is found to have GA after an illness has provoked a crisis in which the brain is damaged due to the acidic environment in the blood created by these excess protein byproducts.

WHAT IS IOGA?                                                                                                                              

The International Organization of Glutaric Aciduria (IOGA) is an international, voluntary, and non-profit organization dedicated to promoting early detection, preventing neurological damage, and assisting in the treatment and rehabilitation of those affected by Glutaric Aciduria Type I (GA1) and other neurological diseases.  Established in 1995 and consisting of approximately 100 members, IOGA engages in patient advocacy and support, offers family networking services, promotes research, offers medical referrals, and engages in patient education. Educational materials include medical journal article reprints, brochures, this web site, and a regular newsletter. 

HOW RARE  IS GA1?

GA1 occurs in about 1 in 40,000 Caucasian births, 1 in 30,000 Swedish births, and in a much higher incidence in certain genetic isolate groups, such as the Native Americans of Manitoba, Canada and the Old Order Amish of Lancaster, Pennsylvania.  But the numbers are not accurate due to the often missed diagnosis of this disorder.

WHAT IS GA1 OFTEN MISDIAGNOSED AS?

GA1 is often misdiagnosed as cerebral palsy.  Or a child may never go into crisis and appear to be healthy.   There have been several cases of  adults diagnosed with GA1.  One misfortunate pitfall is the diagnosis of child abuse.  Some children with GA1 have subdural hematomas (blood in the brain) not due to any trauma.  Sadly, sometimes the parents and caregivers are accused of child abuse before the reason for the injury is found to be GA . 
 
HOW IS GA DIAGNOSED PROPERLY?

GA1 is diagnosed by a blood or urine test using a special test method called mass spectrometry/gas chromatography to identify Glutaric acid.  Not all hospitals or laboratories have the ability to perform this test, but most major teaching university hospitals can.  There is a laboratory that tests for this and 29 different metabolic disorders for under $20 in Pittsburgh, Pennsylvania, and offers supplemental newborn screening from several drops of blood collected ideally within the baby's first 24 to 48 hours of life.  The laboratory is Neo Gen Screening, Inc., and directed by Dr. Edwin Naylor, a biochemical geneticist and respected authority on metabolic disorders.  He is currently screening 62% of Pennsylvania's newborn babies. 

For more information, contact Neo Gen Screening, Inc. at 412-341-8658.

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