Lysosomal Storage Disorders Newborn Screening

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.

Lysosomal storage disorders newborn screening.

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. The final newborn screening reports are mailed to the. Am j med genet c semin med genet. The beginning of the revolution the first widely utilized newborn screen for a genetic disease did not detect a lysosomal storage disease.

Lysosomal storage disorders lsds are genetic disorders resulting in enzyme deficiencies within the lysosomes of the body s cells. Rather it tested for phenylketonuria pku a genetic disorder caused by the inability to break down an amino acid called phenylalanine. Burton b charrow j angle b et al. Newborn screening saves lives and through early often presymptomatic detection has reduced disease associated morbidity.

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. 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. Marsden and levy 2010. Newborn screening for pompe disease.

Want to learn more. Identify key differentiating features for at least two lysosomal storage disorders. 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. Lysosomes are the microscopic recycle bins in the cells that store break down and recycle large unwanted molecules by utilizing very specific enzymes.

States and a few other countries have started newborn screening for lsds primarily for mucopolysaccharidosis type i mps i and pompe disease. A pilot newborn screening study for lysosomal storage disorders lsd in illinois. Amino acids are the building blocks of proteins. Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism.

Therapy for lysosomal storage disorders. Consideration is now being given to inclusion of screening for lysosomal storage disorders lsds.