Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme, alpha-L-iduronidase (IDUA), which is responsible for breaking down complex sugars called glycosaminoglycans (GAGs).
Mayo Clinic’s Biochemical Genetics Laboratory has announced an updated second-tier test to detect Krabbe disease (KD) that uses psychosine (PSY) as a disease marker. The new test method has significantly higher sensitivity to detect this devastating disease in infants and allows identification of KD patients with minimal psychosine elevations.
Dietrich Matern, M.D., Ph.D., discusses the importance of newborn screening, the conditions included within the Recommended Universal Screening Panel, and the new newborn screening panels available through Mayo Medical Laboratories.
A recent article in the Journal Sentinel highlights the importance of newborn screening and what can go wrong in analyzing and interpreting test results.
The recommendations surrounding newborn screening are constantly in flux. Newly discovered treatments or emerging laboratory technologies are enabling additional recommendations for newborn screening.
In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.
Silvia Tortorelli, M.D., Ph.D., Consultant in Laboratory Genetics at Mayo Clinic, recently published an article on Mayo's efficient and cost-effective multiplex assay.
Newborn screening (NBS) has developed throughout the years into a public health prevention program aimed at identifying an increasing number of conditions for which early intervention can prevent premature mortality, morbidity, and disabilities. In a recent article published in the journal Seminars in Perinatology, Mayo Clinic researchers reviewed the current state of NBS for lysosomal storage disorders and discussed their importance in NBS programs.