Management

At present, there is no cure for GPT2-syndrome nor is there therapeutic or pharmacologic treatment specific to GPT2-syndrome. Some individual symptoms such as seizures may, however, be managed by pharmacologic treatment. Given the role of GPT2 in a variety of metabolic processes, nutritional supplements or dietary modifications may reflect future therapeutic options; however, such options require direct testing, first in animal studies and then in human studies, prior to a recommendation for widespread implementation. At present, management options include following of patients by a primary care physician for routine check-ups and monitoring, as well as by specialists as needed (e.g., neurologist, geneticist, dietician, psychologist/psychiatrist, physical therapist).