Glutaric acidemia type II
Other Names for this Disease
- GA 2
- Glutaric acidemia 2
- Glutaric acidemia type 2
What are the signs and symptoms of glutaric acidemia type II?
How might glutaric acidemia type II be treated?
The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. Some affected individuals have a characteristic odor resembling sweaty feet.
Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder.
-Avoidance of fasting. Infants and young children with glutaric acidemia type II should eat frequent meals in order to prevent hypoglycemia and metabolic crises.
-A low-fat, low-protein, high-carbohydrate diet may be advised.
-Riboflavin, L-carnitine and glycine supplements may be needed. These supplements help the body create energy.
-Alert the child's doctor if they should become ill, as illness can trigger a metabolic crisis.
- Glutaric acidemia type II. Genetics Home Reference (GHR). July 2008; http://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii. Accessed 11/14/2011.
- Glutaricaciduria II. NORD. May 10, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/378/viewAbstract. Accessed 8/16/2013.
- Glutaric acidemia type II. Genetics Home Reference. July 2008; http://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii. Accessed 8/16/2013.
- Glutaric acidemia, type 2. STAR-G Genetic Fact Sheets For Parents. 2008; http://www.newbornscreening.info/Parents/fattyaciddisorders/GA2.html. Accessed 11/14/2011.