Glutaric acidemia type 2

Glutaric acidemia type II, also called multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare inherited metabolic disorder in which the body cannot properly break down proteins and fats to release energy. Partly processed nutrients build up in the cells and the blood and tissues become too acidic, a state called metabolic acidosis. The condition usually shows itself in infancy or early childhood as a sudden metabolic crisis, with low blood glucose, weakness, poor feeding, vomiting and reduced activity, and such crises can be life-threatening when set off by common childhood illnesses or other stress. The most severe cases are present at birth and may involve brain malformations, an enlarged liver, a weakened and enlarged heart, kidney cysts, unusual facial features and genital abnormalities, and some patients have a distinctive odor like sweaty feet. Milder forms begin later, and in the mildest the first sign can be muscle weakness in adulthood. Mutations in the ETFA, ETFB or ETFDH genes reduce the activity of two mitochondrial enzymes, electron transfer flavoprotein and its dehydrogenase. It is inherited in an autosomal recessive pattern and its exact incidence is unknown.