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Homocystinuria
:
United States, January 6, 2013
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Currently all states in the United States screen for Homocystinuria.
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
.
HCY = Homocystinuria
Individuals with this disorder lack an enzyme responsible for converting the amino acid homocysteine into cystathionine, which is needed for normal brain development. If undetected and untreated, homocystinuria leads to mental retardation, eye problems, skeletal abnormalities, and stroke. Treatment consists of a special diet, one or more vitamins (B6 or B12), and other supplements (betaine).
Source
National Newborn Screening and Genetics Resource Center.
Retrieved June 19, 2013, from www.marchofdimes.com/peristats.
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