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.

Rather it tested for phenylketonuria pku a genetic disorder caused by the inability to break down an amino acid called phenylalanine. Amino acids are the building blocks of proteins. Want to learn more. Lysosomal storage disorders lsds are genetic disorders resulting in enzyme deficiencies within the lysosomes of the body s cells.

Consideration is now being given to inclusion of screening for lysosomal storage disorders lsds. A pilot newborn screening study for lysosomal storage disorders lsd in illinois. Burton b charrow j angle b et al. Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism.

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

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. 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. The final newborn screening reports are mailed to the. Newborn screening for lysosomal storage disorders enables early diagnosis and can lead to earlier initiation of treatment.

Therapy for lysosomal storage disorders. Identify key differentiating features for at least two lysosomal storage disorders. States and a few other countries have started newborn screening for lsds primarily for mucopolysaccharidosis type i mps i and pompe disease. Lysosomes are the microscopic recycle bins in the cells that store break down and recycle large unwanted molecules by utilizing very specific enzymes.

Some lysosomal storage disorders lsds express early in infancy or childhood and are treatable. During the past decade there has been increasing interest in newborn screening for lysosomal storage disorders lsds.