Newborn Screening Announcements
Click here for the notification letter to primary care providers regarding screening for Pompe Disease and Mucopolysaccharidosis Type I.
Effective 10/1/2017, two metabolic conditions have been removed from the newborn screening panel: short-chain acyl-CoA dehydrogenase deficiency (SCAD) and isobutyryl-CoA dehydrogenase deficiency (IBD). Please click here for the notification letter to primary care providers regarding this change.
Information about Michigan Newborn Screening for the Lysosomal Storage Disorders: Pompe Disease and Mucopolysaccharidosis Type I (MPS I)
Effective 8/7/2017, the MDHHS Newborn Screening Laboratory will begin screening for Pompe disease and Mucopolysaccharidosis Type I (MPS I). While Michigan-specific cutoffs are being validated, only positive screening results will be reported. Notices will be sent to providers before all Pompe disease and MPS I screening results are reported.
Pompe disease is also known as glycogen storage disease, type II (GSD II). Pompe disease affects an enzyme in the body that breaks down glycogen. Glycogen is a type of complex sugar that builds up in lysosomes of people with Pompe disease because they do not make enough of the enzyme needed to break it down. Glycogen build up damages the body, particularly the heart and skeletal muscles.
People with Pompe disease can be treated by enzyme replacement therapy (ERT). There is no cure. Pompe disease is variable. Some people with Pompe disease show symptoms as a baby, called early-onset. They will need treatment right away. Others may not show symptoms until later in childhood or as an adult, called late-onset. They will need to keep regular medical check-ups to know when treatment should start.
Mucopolysaccharidosis Type I (MPS I) is also known as Hurler, Hurler-Scheie, or Scheie disease. MPS I affects an enzyme in the body that breaks down mucopolysaccharides. Mucopolysaccharides are large sugar molecules. They are broken down in the lysosomes. People who have MPS I do not make enough of the enzyme needed to break down mucopolysaccharides. Since they are not broken down, they build up in the lysosomes. This build up damages the bones, joints and other tissues.
People with MPS I may be treated by enzyme replacement therapy (ERT) or bone marrow transplant. There is no cure. MPS I is variable. People with severe MPS I show symptoms as a baby. They will need treatment right away. People with attenuated MPS I show symptoms later. They will need to keep regular medical check-ups to know when treatment should start.
X-linked Adrenoleukodystrophy (X-ALD) has been approved for addition to Michigan's panel. The NBS Program is actively developing protocols for screening and follow-up so that screening can be initiated as soon as a Food and Drug Administration (FDA) laboratory assay is available. More details will be provided once a screening start date is determined.
Updated 03-06-2018 NBS Main Page