The State of Michigan Is Considering Screening Newborns for GAMT Deficiency

Michigan’s Newborn Screening Technical Advisory Committee (TAC) voted unanimously Sept. 28 to move GAMT Deficiency forward to the Michigan Quality Assurance Advisory Committee (QAAC). The QAAC will review GAMT Deficiency for addition to the Michigan Newborn Screening Program and return their recommendation Nov. 13.

Andy Rohrwasser, Newborn Screening Director for Utah’s Public Health Laboratory commented, “Michigan would be the second state to add GAMT to their newborn screening panel. Utah began screening for GAMT in 2015. The addition of GAMT to our panel was straightforward and easy. Screening for GAMT makes sense; early treatment can change a child’s life.”

GAMT (Guanidinoacetate Methyltransferase) Deficiency is a deficiency of creatine synthesis that primarily affects the brain and muscles. Children with GAMT Deficiency experience physical and intellectual disabilities if not diagnosed and treated early in life. Symptoms often include global developmental delay, autism, and seizures, and some children have been incorrectly diagnosed with cerebral palsy. Early treatment with safe and inexpensive dietary supplements is of critical importance for these children.

Laura Martin, genetic counselor and mother of a child with GAMT Deficiency, was present for the TAC vote. She remarked, “The Michigan Newborn Screening Technical Advisory Committee is composed of knowledgeable, thorough and compassionate professionals. It is obvious that they want to do the right thing for the children of Michigan, and I feel honored to have been present for this very important vote.”

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


Categories: Non Profit, State or Provincial Government, Healthcare

Tags: Cerebral Creatine Deficiency Syndrome, GAMT, Guanidinoacetate Methyltransferase, Newborn Screening, RUSP


About Association for Creatine Deficiencies

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The Association for Creatine Deficiencies' mission is to eliminate the challenges of Cerebral Creatine Deficiencies through education, advocacy, and medical research.

Heidi Wallis
Heidi Wallis
ACD Administrative Director, Association for Creatine Deficiencies
Association for Creatine Deficiencies
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