Association for Creatine Deficiencies Supports Universal Newborn Screening of GAMT Deficiency

Advocates for the Association for Creatine Deficiencies (ACD) attended the quarterly meeting of the United States Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) August 12, 2021. Following the ACD representatives’ comments, ACHDNC committee members voted unanimously to advance Guanidinoacetate Methyltransferase Deficiency (GAMT) forward for review by the Evidence Review Committee to add GAMT to the Recommended Uniform Screening Panel for all newborn babies. 
The Evidence Review Committee may take as long as nine months to review GAMT for feasibility of newborn screening in state laboratory programs. When the review is completed, the Evidence Review Committee will recommend whether to advance GAMT Deficiency to the Secretary of Health and Human Services, Xavier Becerra, for final review and addition to the United States’ Recommended Uniform Screening Panel (RUSP). The RUSP is a tool used by most states in establishing which disorders they will include in their newborn screening panel. Additionally, many states have recently adopted legislation that holds their laboratories accountable to add new conditions added to the RUSP in a timely manner. 
“With newborn screening for GAMT, patients will be identified before debilitating long-term effects begin. Families will be able to manage this condition from birth and help their child reach their full potential.  GAMT is a treatable condition, discovered 27 years ago, and this vote marks the beginning of the end of suffering for families like ours. Future families will no longer have to witness the decline of their child and search for answers on their own,” states ACD President Heidi Wallis. 
The ACHDNC meets quarterly to discuss disorders that are serious if not diagnosed at birth and have a suitable treatment and newborn screening method. This is the second time GAMT has been officially nominated for consideration by the ACHDNC. In 2016, GAMT was nominated by Dr. Nicola Longo and was reviewed by the ACHDNC. GAMT was not moved forward to evidence review at that time because an infant had not been diagnosed with GAMT through the use of prospective newborn screening. Thanks to the advocacy work of parents through ACD, as well as the tireless dedication of many researchers and scientists, GAMT was added to the Utah and New York screening panels. Two infants recently screened positive for GAMT, allowing a renomination of the disorder and this critical step forward towards universal GAMT newborn screening in the United States.
Read full press release here.
Source: Association for Creatine Deficiencies