Lysosomal Storage Disorders In The Newborn

Lysosomal storage disorders are rare inborn errors of metabolism with a combined incidence of 1 in 1500 to 7000 live births.

Lysosomal storage disorders in the newborn. Lysosomal storage disorders are rare inborn errors of metabolism with a combined incidence of 1 in 1500 to 7000 live births. To assess the outcomes of newborn screening for 5 lysosomal storage disorders lsds in the first cohort of infants tested in the state of 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. Newborn screening for lysosomal storage disorders in illinois.

Study design tandem mass spectrometry was used to assay for the 5 lsd associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the newborn screening laboratory of the illinois department of public health in chicago. Lysosomal storage disorders are rare inborn errors of metabolism with a combined incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom considered when evaluating a sick newborn. These relatively rare disorders are seldom considered when evaluating a sick newborn.

Even though lysosomal storage disorders lsds are considered to be orphan diseases they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be 1 4 000. These relatively rare disorders are seldom considered when evaluating a sick newborn. Tandem mass spectrometry was used to assay for the 5 lsd associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the newborn screening laboratory of the illinois department of public health in chicago. Pubmed google scholar crossref.

To assess the outcomes of newborn screening for 5 lysosomal storage disorders lsds in the first cohort of infants tested in the state of illinois. 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. Lysosomal storage disorders are rare inborn errors of metabolism with a combined incidence of 1 in 1500 to 7000 live births.

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.