Ornithine Translocase Deficiency
Ornithine Translocase Deficiency is a rare genetic disorder that affects the body's ability to transport ornithine, an amino acid, across cell membranes. This deficiency leads to a buildup of toxic substances in the body, particularly in the liver, which can cause serious health issues. Symptoms may include developmental delays, seizures, and liver dysfunction.
The condition is caused by mutations in the SLC25A15 gene, which is responsible for producing the ornithine translocase protein. Diagnosis typically involves blood tests and genetic testing. Treatment focuses on managing symptoms and may include dietary changes and medications to reduce toxin levels.