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Newborn Screening Program Pilot Study: Hurler Syndrome

Newborn Screening ProgramMelissa Wasserstein, MD

Wednesday, September 16, 2015

The New York State Newborn Screening Program screens all infants born in the state for 47 different diseases. In addition, the program is currently performing a pilot study with Dr. Melissa Wasserstein (pictured left), from the Icahn School of Medicine at Mount Sinai, to screen for four additional diseases that are lysosomal storage disorders (LSDs). Four New York City hospitals are participating and approximately 500 infants are being tested weekly in the pilot study.  The newest disorder to be tested is called Hurler syndrome.

Hurler syndrome is one of some 50 LSDs. All of these are inherited, so the disease runs in the family. Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), is a genetic disorder that results in the buildup of a biochemical called glycosaminoglycan (formerly known as mucopolysaccharide).  This happens because a specialized protein, an enzyme, cannot break down glycosaminoglycans in cell structures called lysosomes. Without this enzyme, a buildup of compounds called heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage. The condition is marked by progressive deterioration, enlargement of the liver and spleen, dwarfism and “coarse” facial features. Additionally, there is a progressive intellectual disability, with death frequently occurring by the age of 10 years. With early detection, babies with Hurler syndrome can be treated with a medicine that replaces the missing non-functional enzyme.

By pilot screening for Hurler syndrome, the NY Newborn Screening Program will learn more about the incidence of this disease in NY.  In addition, the method to screen for this disease will be improved to increase the accuracy of the testing. By sharing our lessons learned, we will help other states meet their mandated testing requirements.  Lastly, the NY State Newborn Screening Program will be prepared for the likely addition of this disorder to our statewide panel in the future, so that all babies with Hurler syndrome can be detected and treated.

Related links:

Hurler Syndrome: MedlinePlus Medical Encyclopedia

Melissa Wasserstein, MD Mount Sinai Hospital

Wadsworth Center's Newborn Screening Program


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