MPS I

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 I.

About MPS I

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder (LSD) caused by an enzyme deficiency. The deficient enzyme is alpha-L-iduronidase (IDUA). This deficiency leads to the accumulation of glycosaminoglycans (also known as mucopolysaccharides) in the lysosome resulting in cellular dysfunction. There is wide range of symptoms and age of onset. MPS I has a severe and attenuated form. Historically, MPS I was called Hurler syndrome (severe), Hurler-Scheie syndrome, and Scheie syndrome (attenuated). Pseudodeficiency can result in a positive screen but is not associated with disease.

TYPES OF MPS I

• Severe (Hurler)
• Attenuated (Hurler-Scheie, Scheie)