Guanidinoacetate methyltransferase deficiency

Diagnosis and Testing

Is there newborn testing for guanidinoacetate methyltransferase (GAMT) deficiency?

As of May 2017, newborn baby screening is being done for guanidinoacetate methyltransferase (GAMT) deficiency in Utah on all babies and other states are considering adding this test to the newborn screening panel. GAMT will be resubmitted for review for inclusion on the Recommended Uniform Screening Panel again soon. If a baby appears to have health problems that could be caused by GAMT deficiency, the easiest way to begin testing for the disorder is to discuss it with the pediatrician or primary doctor. Referral to a metabolic genetic specialist may be necessary. Testing information in your area can also be obtained through a genetic counselor, to find a genetic counselor visit the National Society of Genetic Counselors Find a Genetic Counselor website.

As evidenced by the Utah decision to add GAMT to the newborn screening panel, researchers believe that newborn screening is possible for GAMT deficiency and that the disorder can be added to the current newborn screening panel that most states use. Information on how to add a disorder to newborn screening programs can be found at Save Babies Through Screening Foundation or Baby's First Test. The Association for Creatine Deficiencies is a support group that represents creatine deficiency disorders like GAMT deficiency. They are working to get these disorders added to newborn screening panels.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2017-05-17


Save Babies Through Screening website.

Baby's First Test website.

Mercimek-Mahmutoglu S, Sinclair G, van Dooren SJ, et al. Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. Mol Genet Metab. 2012;107:433-437.

Pasquali M, Schwarz E, Jensen M, et al. Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. J Inherit Metab Dis. 2014;37:[Epub].

The Association for Creatine Deficiencies website.

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