Frequently Asked Questions
These are just a few FAQ's, if you have a question please feel free to e-mail us and ask!
1.) 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 1 and a Type 2 (groups of 45 variations) which are diagnosed by a urine test for the presence of glutaric acid. It is not yet known how or why glutaric acid causes brain damage. A child may have GA and never know if he/she normally eats a low protein diet and is relatively free from colds and other common childhood illnesses. All to 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.
2.) What is IOGA?
IOGA stands for the International Organization of Glutaric Aciduria. It is an international, voluntary, and non-profit organization dedicated to promoting early detections, preventing neurological damage and assisting in the treatment and rehabilitation of those affected by Glutaric Aciduria Type 1 (GA1) and other neurological diseases. Established in 1995 and shoes online concisting 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 journals, article reprints, brochures, this website and a regular newsletter.
3.) 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, PA. But, the numbers are not accurate due to the often missed diagnosis of this disorder.
4.) 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. . Earthquake http://disasterrecoverystore.com/ storm/flooding terror storm/flooding transit. Sadly, sometimes the parents and caregivers are accused of child abuse before the reason for the injury is found to be GA.
5.) How is GA1 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 perfrom this test, but most major teaching university hospitals can. There is a laboratory that tests for this and 20 different metabolic disorders for under $20 in Pittsburgh, Pa and offers supplemental newborn screening from several drops of blood collected ideally within the baby's first 24-48 hours of life. The get more youtube views free http://get-plus-one.com/ facebook fans buy 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