Audititase

Audititase is a rare, inherited metabolic disorder characterized by the deficiency of the enzyme auditin, which is responsible for the degradation of ubiquinated proteins. This deficiency leads to the accumulation of ubiquinated proteins in various tissues, including the liver, kidneys, and brain, causing progressive damage and organ failure. The disorder is typically diagnosed in infancy or early childhood, with symptoms including liver dysfunction, kidney failure, and developmental delays.

The genetic basis of audititase is a mutation in the AUDIT gene, which encodes the auditin protein. The most common mutation is a nonsense mutation, resulting in a truncated protein lacking the catalytic domain necessary for ubiquinated protein degradation. Other mutations may also affect the structure or function of the auditin protein.

There is currently no cure for audititase, and treatment is primarily supportive, focusing on managing symptoms and preventing complications. Liver transplantation may be considered in severe cases, but the long-term prognosis remains poor due to the progressive nature of the disease. Research into potential therapies, such as enzyme replacement or gene therapy, is ongoing, but no effective treatments have been approved as of yet.

Audititase is a rare condition, with an estimated prevalence of less than one in a million. It is inherited in an autosomal recessive pattern, meaning that both copies of the AUDIT gene must be mutated for the disorder to occur. Individuals with one mutated copy of the gene are typically unaffected and may serve as carriers of the mutation.