Findings in MPS I may overlap with those of other lysosomal storage disorders, particularly other mucopolysaccharide diseases, including multiple sulfatase deficiency. Detailed clinical findings and biochemical testing are critical for distinguishing among them.
Some diseases that may resemble MPS I include:
Genetic counselors are health professionals who are trained to help families understand genetic disorders such as MPS I disease. A genetic counselor can help you determine if you are a carrier of a gene defect that causes MPS I and can provide valuable information and support for family planning. To learn more, click here.