Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia).
Gene Name | Chromosome number |
---|---|
IDUA | 4 |
GLB1 | 3 |
HYAL1 | 3 |
ARSB | 5 |
GUSB | 7 |
GNS | 12 |
GALNS | 16 |
NAGLU | 17 |
SGSH | 17 |