Glutaric acidemia type 2

Symptoms

What are the different forms of glutaric acidemia type 2?

There are 3 different forms of glutaric acidemia type 2 (GA-2) based on age of onset and whether your child is born with physical differences:

-Neonatal glutaric acidemia type 2 with abnormalities: Babies with this form of GA-2 may be born with problems in their heart, liver, kidneys, feet, or genitalia. This is the most severe form of GA-2 and many babies with severe heart differences die shortly after birth.

-Neonatal glutaric acidemia type 2 without abnormalities: Babies with this kind of GA-2 are usually born looking healthy, but start showing signs of GA-2 in the first days after birth. These babies may have difficulty breathing, feeding issues, a "smelly feet" odor, and weak muscles. If your child is showing any of these signs call your doctor immediately.

-Mild or late-onset glutaric acidemia type 2: This is the mildest form of GA-2. Symptoms such as muscle pain after exercise and difficulty controlling movements may begin in childhood or adulthood.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/glutaric-acidemia-type-2/symptoms/3329 • DATE UPDATED: 2016-07-05

References

https://www.medicalhomeportal.org/newborn/glutaric-acidemia-type-2

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