Lysosomal Storage Disorders Newborn Screening

Newborn screening for pompe disease.

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. Lysosomes are the microscopic recycle bins in the cells that store break down and recycle large unwanted molecules by utilizing very specific enzymes. Identify key differentiating features for at least two lysosomal storage disorders. 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. Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism. Am j med genet c semin med genet. 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.

A pilot newborn screening study for lysosomal storage disorders lsd in illinois. Lysosomal storage disorders lsds are genetic disorders resulting in enzyme deficiencies within the lysosomes of the body s cells. Therapy for lysosomal storage disorders. 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.

Newborn screening saves lives and through early often presymptomatic detection has reduced disease associated morbidity. During the past decade there has been increasing interest in newborn screening for lysosomal storage disorders lsds. 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. Amino acids are the building blocks of proteins.

The final newborn screening reports are mailed to the. Consideration is now being given to inclusion of screening for lysosomal storage disorders lsds. Marsden and levy 2010. States and a few other countries have started newborn screening for lsds primarily for mucopolysaccharidosis type i mps i and pompe disease.

Newborn screening for lysosomal storage disorders enables early diagnosis and can lead to earlier initiation of treatment. Want to learn more.