Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby may need to have another test to confirm the result. It is important to have follow-up testing and clinical evaluation if recommended. The Utah Newborn Screening Program will contact you and your child’s pediatrician with follow-up recommendations.
The Genetics Clinic at Primary Children’s Hospital cares for babies diagnosed with MPS II.
About MPS II
Mucopolysaccharidosis type II (MPS II) is a rare, inherited lysosomal storage disorder that primarily affects males. It is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S). Without this enzyme, the body cannot break down specific complex sugars called glycosaminoglycans (GAGs). These sugars build up in cells throughout the body, leading to progressive damage in various organs and tissues.
TYPES OF MPS II
- Severe (Neuronopathic)
- Attenuated (Non-neuronopathic)
Frequency
MPS II affects approximately 1 in 100,000 – 170,000 male live births.
Condition Type
MPS II is a Lysosomal Storage Disorder.
Also Known As
- Hunter Syndrome
- Mucopolysaccharidosis Type II
- Iduronate-2-Sulfatase Deficiency
- MPS II
- MPS2