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).

The algorithm can be viewed here.

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