Glutaric acidemia type 2

Causes

What gene change causes glutaric acidemia type 2?

Changes in the ETFA, ETFB or ETFDH genes cause glutaric acidemia type 2 (GA-2). Typically these genes tell our body how to break down certain types of proteins and fats. When a person has GA-2, the body cannot break down the proteins and fats, which results in too much fat building up in the organs and cells in the body. The build up of these proteins and fats leads to the signs and symptoms of GA-2.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/glutaric-acidemia-type-2/causes/3301 • DATE UPDATED: 2016-06-20

References

http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii

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