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3-Hydroxy 3-methylglutaric aciduria: United States, January 6, 2013

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Currently all states in the United States screen for 3-Hydroxy 3-methylglutaric aciduria.

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.

HMG = Hydroxymethylglutaric aciduria or HMG-CoA lyase deficiency or 3-OH 3-CH3 glutaric aciduria

An inability to process the amino acid leucine leads to low blood sugar and accumulation of several organic acids, especially following illness or fasting. Without treatment, the disorder can lead to brain damage, mental retardation, coma and death. Avoiding fasting and following a diet low in protein and fat and high in carbohydrates can lead to normal development.

Source

National Newborn Screening and Genetics Resource Center.

Retrieved May 24, 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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Hawaii	Mississippi	Oregon	Wyoming

United States

3-Hydroxy 3-methylglutaric aciduria: United States, January 6, 2013

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