<unk>  has an autosomal recessive pattern of inheritance. Mutations in SLC25A15 cause<unk> .<unk>  belongs to a class of metabolic disorders referred to as urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. The SLC25A15 gene provides instructions for making a protein called a mitochondrial<unk>  transporter. This protein is needed to move a molecule called<unk>  within the mitochondria (the energy-producing centers in cells). Specifically, this protein transports<unk>  across the inner membrane of mitochondria to the region called the mitochondrial matrix, where it participates in the urea cycle. Mutations in the SLC25A15 gene result in a mitochondrial<unk>  transporter that is unstable or the wrong shape, and which cannot bring<unk>  to the mitochondrial matrix. This failure of<unk>  transport causes an interruption of the urea cycle and the accumulation of ammonia, resulting in 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 altered gene but do not show signs and symptoms of the disorder.
Ornithine translocase deficiency
Holocarboxylase synthetase deficiency
Guanidinoacetate methyltransferase deficiency
Carbamoyl phosphate synthetase I deficiency
Malonyl-CoA decarboxylase deficiency
Aminoacylase 1 deficiency
Arginine:glycine amidinotransferase deficiency
Adenylosuccinate lyase deficiency