<unk>  has an autosomal recessive pattern of inheritance. Children with<unk>  carry two defective copies of the IDUA gene, which has been mapped to the 4p16.3 site on chromosome 4. This is the gene which encodes for the protein iduronidase. , more than 201 different mutations in the IDUA gene have been shown to cause MPS I. Because<unk>  is an autosomal recessive disorder, affected persons have two nonworking copies of the gene. A person born with one normal copy and one defective copy is called a carrier. They will produce less α-L-iduronidase than an individual with two normal copies of the gene. The reduced production of the enzyme in carriers, however, remains sufficient for normal function; the person should not show any symptoms of the disease.
Hurler syndrome
Hunter syndrome
Kindler syndrome
Mucopolysaccharidosis
Birk-Barel syndrome
Hurler–Scheie syndrome
Pelger–Huët anomaly
Scheie syndrome