Glutaric
Acidemia (GA-II)
Glutaric Acidemia Type II is also known as Multiple
Acyl-CoA Dehydrogenase Deficiency.
What is it?
Glutaric Acidemia Type II (GA-II) is a disorder in which the body cannot oxidize fatty acids. GA-II manifests in three forms. The neonatal onset of the disease is most serious and is often fatal within a few weeks of birth.
Inheritance and Frequency
The gene defect for GA-II is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only 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.
Signs & Symptoms
Symptoms of neonatal GA-II in infants with congenital anomalies may include severe hypoglycemia, metabolic acidosis, hypotonia, hepatomegaly, and, often, an odor of "sweaty feet." It can be fatal within the first week.
When congenital anomalies are absent, symptoms may be milder and untreated infants may survive for a longer period.
Long Term Effects
Treatment
Treatment for GA-II often includes eating frequently and a diet high in carbohydrates, low in protein, and low in fat. In addition, supplementation with riboflavin and carnitine may be helpful.
History
Screening For
Visit the "What Does Your State Screen For Page" to find out what your state screens for in its newborn screening test.
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 the screening for this to you no matter what state you live in. 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
- A Parent's Guide to GA2 - Resource for Parents
- National Organization for Rare Disorders - Glutaric Acidemia II
- OMIM - Glutaric Acidemia Type II
Support Groups
FOD Family Support
Group
805 Montrose Drive
Greensboro, NC 24710
Contact Person: Deb Lee Gould
Phone: (336) 547-8682
Email: deb@fodsupport.org
United Mitochondrial Disease Foundation
P.O. Box 1151
Monroeville, PA 15146-1151o@umdf.org
Phone: (412) 793-8077
Email: info@umdf.org
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