Thank you for seeking out more information on your patient’s behalf. While there are no existing cures for GPT2 Deficiency, clinicians can still help to address the symptoms of this disease.

GPT2 Deficiency must be confirmed through genetic testing, specifically Whole Exome Sequencing (WES).

Standard therapies that can address the symptoms of this disease. These include:

  • Physical Therapy
  • Occupational Therapy
  • Speech and Feeding Therapy
  • Developmental Therapy
  • Early Intervention

Comprehensive interdisciplinary care can include, but is not limited to the following clinicians:

  • Neurologist
  • Developmental Pediatrician
  • Primary care physician or pediatrician
  • Gastroenterologist
  • Geneticist
  • Ear Nose and Throat Specialist