Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.
stiffness The cause of MPS I is inherited genetic mutations on chromosome 4 that leads to deficiency in the lysosomal enzyme a-L-iduronidase.
Joint stiffness, corneal clouding, umbilical hernia, abnormal facies, hepatomegaly, joint contractures, and cervical myelopathy occur. Death tends to be in their 20s.