Glutaric acidemia type 2

Overview

What is glutaric acidemia type 2?

Glutaric acidemia type 2 (GA-2), also called Multiple acyl-CoA dehydrogenase deficiency (MADD), is a genetic condition where your body cannot break down some types of proteins and fats. Typically, our bodies break down proteins and fats from our food and turn them into energy. People with GA-2 have a genetic change which makes their bodies less effective at breaking down the proteins and fats. When the body cannot break down fats and proteins correctly, harmful substances like glutaric acid build up in the body. Everyone has some acid in their blood, but high levels can be toxic.

Signs and symptoms of GA-2 usually appear in early infancy, but may also occur in early childhood or even adulthood in mildly affected individuals. Babies with GA-2 who have not been treated or are sick (i.e., they have a metabolic crisis) often have poor appetite, low blood sugar (hypoglycemia), trouble breathing, a "sweaty feet" odor, muscle weakness, vomiting, diarrhea, irritability and tiredness. If they do not get medical care, these symptoms can progress to seizures and coma. In severe cases of GA-2, some babies are born with physical problems such as an enlarged and weakened heart, an enlarged liver, brain abnormalities, kidney cysts, abnormal feet, or genital abnormalities. In mild cases, adults may develop muscle weakness as the first sign of the condition.

In treated individuals with GA-2, stress, illness, and infection can often trigger symptoms. If your child has a fever, diarrhea or vomiting for more than 12 hours, you should call your child's pediatric metabolic specialist. In untreated children with GA-2, they can develop seizures, intellectual delays, breathing problems, or coma. Babies that are not diagnosed early and do not undergo treatment for GA-2 may die in the first few weeks or months of life. It is important to identify GA-2 as early as possible and to work with your doctor and metabolic dietician to identify the appropriate treatment for your child.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/glutaric-acidemia-type-2/overview/3297 • DATE UPDATED: 2016-07-05

References

http://www.newbornscreening.info/Parents/fattyaciddisorders/GA2.html

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=26791

https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii#synonyms

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