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Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby will need to have another test. Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, GAMT Deficiency will result in harmful effects.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with GAMT Deficiency.
About GAMT Deficiency
GAMT Deficiency causes a lack of creatine in the brain and muscles. Creatine is needed for the body to store and use energy properly. People affected by GAMT Deficiency are not able to convert guanidinoacetate into creatine. Without treatment, a harmful amount of guanidinoacetate builds up in the body. GAMT Deficiency can cause intellectual disability, autistic-like behaviors, seizures, muscle weakness, and severe speech delay. If GAMT Deficiency is detected early and proper treatment is followed, children with GAMT Deficiency can lead healthy lives.
Frequency
GAMT Deficiency affects approximately 1 in 114,000 babies in Utah.
Condition Type
GAMT Deficiency is an Amino Acid Disorder.
Also Known As
Guanidinoacetate, Cerebral Creatine Deficiency Syndrome, CCDS, Guanidinioacetate Methyltransferase Deficiency, GAMT