NEWBORN SCREENING FOR MUCOPOLYSACCHARIDOSIS (MPS1) PILOT STUDY

Emory University, Atlanta GA

Investigators

Abstract

The goal of newborn screening is to detect potentially fatal or disabling conditions in newborns, thereby providing a window of opportunity for early treatment, often while the child is still asymptomatic. Such early detection and treatment can have a profound impact on the clinical severity of the condition in the affected child. If left undiagnosed and untreated, the consequences of the targeted disorders can be dire, many causing irreversible neurological damage, intellectual, developmental and physical disabilities, and even death. In 2006, the American College of Medical Genetics (ACMG) developed newborn screening guidelines that recommend that all newborn infants be screened for 31 core conditions and that 26 secondary conditions identified during the core evaluations be reported. These recommendations have been accepted by the HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) (authorized by the Children's Health Act of 2000), and by the Secretary of HHS. Most states now use this or very similar panels for newborn screening. Currently, there are thousands of rare disorders that have been identified and hundreds that could potentially benefit from newborn screening. MPSI is a rare, inherited disease of metabolism in which an individual lacks an enzyme called lysosomal alpha-L-iduronidase. Without the specific enzyme individuals cannot break down long chains of sugar molecules called glycosaminoglycans. The glycosaminglycans build up and can damage organs, including the heart. The severe form of MPS1 is known as Hurler syndrome in which death occurs in early childhood. Attenuated forms (Huler/Scheie and Scheie syndromes) have a later onset in which death occurs either in the teens or twenties. Hurler syndrome is the predominant form of the disease (75-80% of patients).