Lysosomal Storage Disorders Newborn Screening

There are approximately 50 known lsds each caused by a unique gene mutation which leads to a disease specific enzyme that is deficient or malfunctioning.

Lysosomal storage disorders newborn screening. States and a few other countries have started newborn screening for lsds primarily for mucopolysaccharidosis type i mps i and pompe disease. Lysosomal storage disorders lsds are genetic disorders resulting in enzyme deficiencies within the lysosomes of the body s cells. Amino acids are the building blocks of proteins. Want to learn more.

Due to the availability of enzyme replacement therapies ert for several lysosomal storage disorders lsd this group of diseases is currently under discussion to be included in newborn screening programs nakamura et al. Lysosomes are the microscopic recycle bins in the cells that store break down and recycle large unwanted molecules by utilizing very specific enzymes. During the past decade there has been increasing interest in newborn screening for lysosomal storage disorders lsds. New treatments have become available for many of these conditions and new laboratory methods for detecting them in dried blood spots dbss have been developed.

Some lysosomal storage disorders lsds express early in infancy or childhood and are treatable. The beginning of the revolution the first widely utilized newborn screen for a genetic disease did not detect a lysosomal storage disease. Burton b charrow j angle b et al. Rather it tested for phenylketonuria pku a genetic disorder caused by the inability to break down an amino acid called phenylalanine.

Consideration is now being given to inclusion of screening for lysosomal storage disorders lsds. Identify key differentiating features for at least two lysosomal storage disorders. Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism. Among those are several lysosomal storage disorders that have been evaluated in limited pilot studies or that are already included in a few national or international newborn screening programs.

Therapy for lysosomal storage disorders. Am j med genet c semin med genet. Marsden and levy 2010. Newborn screening saves lives and through early often presymptomatic detection has reduced disease associated morbidity.

A pilot newborn screening study for lysosomal storage disorders lsd in illinois. Lysosomal storage disorders develop as a result of an enzyme deficiency or malfunction that causes cell waste to build up within the cell instead of being excreted.