Glutaric aciduria type I (GA1) is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase leading to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. Glutaric aciduria type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is caused by a deficiency of either electron transport flavoprotein or of electron transport flavoprotein oxoreductase.
Busquets C, Merinero B, Christensen E, Gelpi JL, Campistol J, Pineda M, Fernandez-Alvarez E, Prats JM, Sans A, Arteaga R, Marti M, Campos J, Martinez-Pardo M, Martinez-Bermejo A, Ruiz-Falco ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A
タイトル
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
