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Newborn Screening for Wilson Disease: Does Liquid Chromatography–Tandem Mass Spectrometry Provide the Solution?

National Human Genome Research Institute, NIH, Bethesda, MD

Address correspondence to the author at:, National Human Genome Research Institute, NIH, Rm. 10C-103, MSC 1851, Bldg. 10, 10 Center Dr., Bethesda, MD 20892-1851, Fax 301-402-2740, E-mail bgahl@helix.nih.gov

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Detailed criteria for newborn screening programs have been formulated (1), but the basic principles include requirements that the screened disorder be medically serious, that effective therapy be available, and that the cost of detection plus treatment be justifiable (2). Wilson disease, a metal-storage disorder in which copper cannot be properly excreted in the bile and fails to be incorporated into ceruloplasmin (3), meets these criteria. Wilson disease is caused by biallelic mutations in ATP7B¹ (ATPase, Cu++ transporting, beta polypeptide), which encodes a copper-transporting ATPase located in the trans-Golgi network (4). Typically, Wilson disease manifests in adulthood with liver disease, neurologic impairment, or both (3). These complications impart chronic morbidity and mortality to affected individuals; in addition, intravascular hemolysis induced by overly aggressive chelation can cause acute renal failure and death. Therapy with a copper-restricted diet and chelation has proved efficacious; early treatment provides additional benefit, given that the hepatic and neurologic damage eventually becomes irreversible. Finally, with an approximate incidence of 1 in 30 000 live births, Wilson disease . . . [Full Text of this Article]