Guanidinoacetate Methyltransferase Deficiency (GAMT)

Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited condition that affects the body’s ability to produce creatine. Without an adequate supply of creatine, the body is unable to use and store energy properly. This can cause severe neurological problems such as intellectual disability, limited speech development, recurrent seizures, behavioral problems, and involuntary movements. Early diagnosis and treatment can lead to improved health and development in children affected by GAMT deficiency. GAMT was added to the Recommended Uniform Screening Panel (RUSP) in January 2023

NewSTEPs partners with state newborn screening programs, partner organizations, and federal agencies to provide a central location for GAMT resources. If you have additional resources that you would like included, please contact NewSTEPs.

Educational Resources

NewSTEPs has compiled educational resources that can be used to support screening efforts in states and regions. For all educational resources, pertinent publications, and archived webinars please visit the NewSTEPs resource library and filter for GAMT.

Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Recommendations