Newborn Screening

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).

By Christoph Bahn • June 30, 2020

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.

By Christoph Bahn • May 28, 2020
The algorithm can be viewed here.
By Alyssa Frank • July 28, 2017

In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.

By Communiqué Archive • November 16, 2016