Marzia Pasquali, PhD, ARUP section chief of Biochemical Genetics and Newborn Screening

December 30, 2020

Marzia Pasquali, PhD, ARUP section chief of Biochemical Genetics and Newborn Screening, has been integral to ensuring that infants in Utah and other states are tested for guanidinoacetate methyltransferase (GAMT) deficiency. If undetected and untreated, GAMT deficiency can lead to intellectual disability.

SALT LAKE CITY – In December 2020, Utah’s Newborn Screening Program identified the first patient with guanidinoacetate methyltransferase (GAMT) deficiency solely through newborn screening. GAMT deficiency is an inherited condition that affects the body’s ability to produce creatine. Without creatine, the body is unable to use and store energy resulting in severe neurological problems including intellectual disability, limited speech development, recurrent seizures, autistic-like behavior, and involuntary movements. Because early diagnosis and treatment can lead to improved health and development in children, GAMT deficiency was added to Utah’s newborn screening panel in 2015.

"I would like to offer this family both my sympathies for the difficulty of receiving this unexpected news and also my encouragement that their child's future is bright,” says Heidi Wallis, a parent of two children with GAMT and president of the Association for Creatine Deficiencies. Wallis was instrumental in getting GAMT added to Utah’s newborn screening panel. She adds, “Newborn screening for GAMT in Utah has forever altered the course of this child's life for the better. GAMT is a debilitating disease. Most families are forced to watch their children decline and desperately search for answers. When treated from birth, children with GAMT live a typical, healthy life.”

This is the first newborn identified with GAMT solely by newborn screening and without a family history. This infant's diagnosis will likely open the door to many more states and countries adding GAMT to their screening panels.

Collaboration between the Utah Department of Health, the University of Utah, and ARUP Laboratories ultimately made screening possible. Although rare, Nicola Longo, MD, PhD, professor of pediatrics and chief of the Division of Medical Genetics at the University of Utah says, “GAMT deficiency is a treatable condition as long as therapy is started early in life. Therapy is relatively simple and inexpensive. The first case identified by newborn screening worldwide demonstrates that GAMT deficiency can be detected at birth preventing any damage.”

Marzia Pasquali, PhD, professor of pathology and section chief of Biochemical Genetics at ARUP Laboratories, believes it’s only fitting that the first case is being reported in Utah. “This state was the first in the United States to develop a screening method and the first to initiate screening for GAMT deficiency. We hope the identification of this case will lead to the inclusion of GAMT deficiency in newborn screening programs worldwide.”

Newborn blood screening in Utah consists of two screens: one at 24-48 hours after birth and a second at two weeks of age. Blood is obtained by a small heel poke and collected on a screening card. The card is sent to the Utah Department of Health’s Public Health Laboratory where it is tested for 42 disorders. For more information on the Utah Newborn Screening Program visit

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ARUP Researchers’ Work Helped Improve Newborn Screening

Nicola Longo, MD, PhD, chief of the University of Utah’s Division of Medical Genetics, is known for his research into guanidinoacetate methyltransferase (GAMT) deficiency and for his care for those with the disorder.

Marzia Pasquali, PhD, and Nicola Longo, MD, PhD, both ARUP medical directors and University of Utah faculty members, played an integral role in developing a test for the identification of guanidinoacetate methyltransferase (GAMT) deficiency and in developing testing therapies for this condition.

To validate the newborn screening test for GAMT deficiency, Pasquali, ARUP section chief of Biochemical Genetics and Newborn Screening, tested 10,000 deidentified bloodspots and was able to identify three known GAMT deficiency samples1.

Pasquali and Longo, the chief of the U of U Division of Medical Genetics, advocated for Utah and other states to start screening for GAMT deficiency because it can be done easily and inexpensively. Early detection of the disorder enables early treatment, preventing intellectual disability.

“With this screening, as time passes, we may learn more about the frequency of this disorder,” Pasquali said.

Read more about the work done by Pasquali and Longo in this Magnify article.

1. Pasquali M., Schwarz E., Jensen M, et al. Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. J Inherit Metab Dis. 2014;37(2):231–6.