<unk>  has an autosomal recessive pattern of inheritance. Mutations in the GSS gene cause<unk> . This gene provides instructions for making the enzyme<unk>  synthetase. This enzyme is involved in a process called the gamma-glutamyl cycle, which takes place in most of the body's cells. This cycle is necessary for producing a molecule called<unk> .<unk>  protects cells from damage caused by unstable oxygen-containing molecules, which are byproducts of energy production.<unk>  is called an antioxidant because of its role in protecting cells from the damaging effects of these unstable molecules which are byproducts of energy production. Mutations in the GSS gene prevent cells from making adequate levels of<unk> , leading to the signs and symptoms of<unk> . This disorder 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 required to be born with the disorder. The parents of an individual with an autosomal recessive disorder each carry one copy of the defective gene, but usually are not affected by the disorder.
Glutathione synthetase deficiency
Mitochondrial complex II deficiency
N-Acetylglutamate synthase deficiency
Holocarboxylase synthetase deficiency
Mitochondrial trifunctional protein deficiency
Purine nucleoside phosphorylase deficiency
Glutaminase deficiency
Carbamoyl phosphate synthetase I deficiency