Lysosomal Storage Disorders Newborn Screening

Burton b charrow j angle b et al.

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. Some lysosomal storage disorders lsds express early in infancy or childhood and are treatable. States and a few other countries have started newborn screening for lsds primarily for mucopolysaccharidosis type i mps i and pompe disease. The final newborn screening reports are mailed to the.

Am j med genet c semin med genet. Newborn screening saves lives and through early often presymptomatic detection has reduced disease associated morbidity. The beginning of the revolution the first widely utilized newborn screen for a genetic disease did not detect a lysosomal storage disease. Newborn screening for lysosomal storage disorders enables early diagnosis and can lead to earlier initiation of treatment.

Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism. Lysosomal storage disorders lsds are genetic disorders resulting in enzyme deficiencies within the lysosomes of the body s cells. Identify key differentiating features for at least two lysosomal storage disorders. Marsden and levy 2010.

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 develop as a result of an enzyme deficiency or malfunction that causes cell waste to build up within the cell instead of being excreted. 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. During the past decade there has been increasing interest in newborn screening for lysosomal storage disorders lsds. A pilot newborn screening study for lysosomal storage disorders lsd in illinois. Lysosomes are the microscopic recycle bins in the cells that store break down and recycle large unwanted molecules by utilizing very specific enzymes.

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.