The State of Georgia is Considering Screening for a New Disorder in Newborns

CARLSBAD, Calif., September 11, 2017 (Newswire.com) - GAMT (Guanidinoacetate Methyltransferase Deficiency) is a deficiency of creatine in the muscles and brain. Children with GAMT experience physical and intellectual disabilities if not diagnosed and treated early in life. The symptoms mimic autism, cerebral palsy, and epilepsy. Early intervention is critical. With treatment, patients experience uninterrupted physical and intellectual development.

On Sept. 8, Georgia Department of Public Health, Newborn Screening Program reviewed GAMT Deficiency for inclusion on the state’s newborn screening panel. Association for Creatine Deficiencies (ACD) Director of Advocacy, Kim Tuminello remarked “Newborn screening for GAMT is a simple add-on to the existing newborn blood test. It is low in cost, and the most proactive way to detect this debilitating disorder before damage is done. Instead of waiting for milestones to be missed or the onset of seizures, families can start a simple oral supplementation that will change the life of these children. We are thrilled that the Georgia Department of Public Health, Newborn Screening Program has taken the first step toward adding this to their panel."

Newborn screening for GAMT is a simple add-on to the existing newborn blood test. It is low in cost, and the most proactive way to detect this debilitating disorder before damage is done. We are thrilled that the Georgia Department of Public Health, Newborn Screening Program has taken the first step toward adding this to their panel.

Kim Tuminello, Advocacy Director

Glenda Poarch-Hancock spoke of her daughter with GAMT, “She was diagnosed with multiple seizure disorders, MR, Cerebral Palsy, and Autism before her true diagnosis of GAMT at the age of 8. She is now 18, but cognitively she is 2. It is so important to us that GAMT gets on the newborn screening so other children with our disorder can live normal healthy lives and neither they nor their families have to suffer as we have in the past.”

Georgia would be the second state to include GAMT. Utah began screening for GAMT in 2015. The ACD congratulates Utah and Georgia for showing leadership and progressive thinking as it relates to newborn screening, showing responsibly for the health and long-term quality of life of the thousands of babies they screen each year.

About ACD: The Association for Creatine Deficiencies’ mission is to eliminate the challenges of Cerebral Creatine Deficiency Syndromes (CCDS). ACD is committed to providing patient, family, and public education to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for CCDS. For more information regarding ACD, please visit http://www.creatineinfo.org.

Source: Association for Creatine Deficiencies