Glutaric acidemia type II (GA2)

Gene
ETFDH
Location
4q32-q35
Disease
Glutaric acidemia type II (GA2)
Description
Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy.
Signs and Symptoms
Due to buildup of incompletely processed proteins and fats symptoms can arise including weakness, poor feeding, decreased activity, and vomiting. Other abnormalities include brain malformations, an enlarged liver, a weakened and enlarged heart, fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Mutations in the ETFA and ETFB genes can also cause this disorder.
Type
Fatty Acid Disorder
Category
Secondary

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