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Citrullinemia type 1: United States, January 6, 2013

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Currently all states in the United States screen for Citrullinemia type 1.

In the United States, screening for the 31 core newborn screening conditions is not universally required by rule or law and fully implemented in any state.

Footnotes

For more information on the core disorders, see the August 2004 report Newborn Screening: Toward a Uniform Screening Panel and Systems, developed by the American College of Medical Genetics and Evidence Review report on SCID, prepared by the Advisory Committee on heritable Disorders in Newborns and Children.

For more detailed information on newborn screening status, please see the National Newborn Screening Status Report developed by the National Newborn Screening and Genetics Resource Center.

CIT1 = Citrullinemia type 1

Build-up in the body of citrulline and ultimately ammonia can begin during the newborn period or later in infancy. Without treatment, seizures, coma, brain damage and death can result. With early diagnosis and treatment, normal development is possible. Treatment includes a low-protein diet, medications to rid the body of amino groups to prevent ammonia build-up, and nutritional supplements.

Source

National Newborn Screening and Genetics Resource Center.

Retrieved May 22, 2013, from www.marchofdimes.com/peristats.

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United States	Idaho	Missouri	Pennsylvania
Alabama	Illinois	Montana	Rhode Island
Alaska	Indiana	Nebraska	South Carolina
Arizona	Iowa	Nevada	South Dakota
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United States

Citrullinemia type 1: United States, January 6, 2013

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