Establishment of Newborn Screening for MPS Using High-Throughput Systems


Target Investigator:
Shaukat Khan, PhD
Research Scientist


Mucopolysaccharidoses (MPS) are lysosomal storage diseases caused by the deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycan (GAGs). Lysosomal accumulation of GAG polymers results in cell, tissue and organ dysfunction. There are eleven (11) known enzyme deficiencies that give rise to seven distinct MPS. Most MPS patients are asymptomatic at birth with subsequent onset of clinical signs and symptoms. Without treatment, all but the mildest cases are fatal with an average life expectancy of one to two decades. Newborn screening (NBS) is recognized internationally as an essential preventive public health program for early identification of disorders in newborns that can affect their long-term health. Early detection, diagnosis and treatment of certain genetic, metabolic or infectious congenital disorders can lead to significant reductions in disease severity, associated disabilities and death. In the United States, nearly 4.2 million neonates every year undergo NBS. We expect that nearly 168 newborns affected with MPS will be identified each year. Early detection of MPS will enable genetic counseling of the parents and early treatment. Development of a new laboratory screening system will be essential to monitor the clinical course before, during and after treatment. Current laboratory screening methods are inadequate or not suitable. The aim of this project is to develop a highly specific, sensitive, simple and cost-effective newborn screening system for MPS patients by utilizing the innovative technology of a RapidFire high-throughput system with 6400 series MS/MS (Agilent, USA). This unique research work will enhance patient care and support the growth of technology in the State of Delaware.