Glutaric Acidemia
Type I (GA-I)
An Organic Acid
Disorder
What is it?
Glutaric Acidemia Type I (GA-I) is an enzyme deficiency disorder.
Inheritance and Frequency
The gene defect for GA-I is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.
It is reported that fewer than 100 cases of GA-I are known in the United States.
Signs & Symptoms
This enzyme deficiency disorder is characterized by hypoglycemia, dystonia, and dyskinesia. After a period of apparently normal development, the disorder may appear suddenly and present as vomiting, metabolic acidosis, hypotonia, and central nervous system degeneration.
Long Term Effects
It is not yet known how or why Glutaric Acid causes brain damage, yet damage occurs when a crisis causes an acidic environment in the blood created by excess protein byproducts. Crisis can be provoked by common childhood illnesses such as colds, flu, ear infections, stomach virus, fever, etc.
Treatment
Treatment may include intravenous fluids and bicarbonate to treat acidosis. In addition, dialysis may be necessary in some affected individuals. It is reported that dietary restrictions have had inconsistent outcomes. Carnitine supplementation may be needed.
History
GA-I is often misdiagnosed as cerebral palsy or can be mistaken for child abuse. Some children with GA-I have subdural hematomas (blood in the brain), and sometimes parents and caregivers are accused of child abuse. However these subdural hematomas are not due to any trauma to the child.
Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.
Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter the state of your residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.
Other Sites of Reference
- Glutaric Acidemia Type I - Genetics Home Reference
- National Organization of Rare Disorders - glutaric aciduria 1
- OMIM - Glutaric Acidemia Type I
- SimulConsult GA1 Case Study - Reference for medical professionals
- The Difference is Black and Wyvill - (PDF) CA March of Dimes flyer about 2 boys named Zachary
- Allison's GA-I Website - A Personal Story
- Josh's GA-I Website
- The Lily Foundaton- Story of Lily and the foundation in her name
- Low Protein Foods - Dietary Specialist
Support
Groups
International Organization
for Gluratic Acidemia
RD #4, Box 299-A
Blairsville, Pennsylvania 15717
Contact Person: Michael Metil
Phone: (724)459-0179
MUMS - National Parent-to-Parent Network
Organic Acidemia Association
13210 35th Avenue
Plymouth, MN 55441
Contact: Kathy Stagni
Phone: (763) 559-1797
Write to OAA
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