<unk>  has an autosomal recessive pattern of inheritance. Mutations in the ETFA, ETFB, and ETFDH genes cause<unk> I. Mutations in these genes result in a deficiency in one of two enzymes that normally work together in the mitochondria, which are the energy-producing centers of cells. The ETFA and ETFB genes encode two subunits of the enzyme electron transfer flavoprotein, while the ETFDH gene encodes the enzyme Electron-transferring-flavoprotein dehydrogenase. When one of these enzymes is defective or missing, the mitochondria cannot function normally, partially broken-down proteins and fats accumulate in the cells and damage them; this damage leads to the signs and symptoms of<unk> I. This condition is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene – one from each parent – are needed to inherit the disorder. The parents of an individual with an autosomal recessive disorder are carriers of one copy of the defective gene, but do not show signs and symptoms of the disorder themselves.
Glutaric acidemia type 2
Hawkinsinuria
Aspartylglucosaminuria
Glutaric aciduria type 1
Phenylketonuria
Alkaptonuria
Homocystinuria
Orotic aciduria