Genetics Hurler syndrome

hurler syndrome has autosomal recessive pattern of inheritance.

children born mps parent carry defective idua gene, has been mapped 4p16.3 site on chromosome 4. gene named idua because of iduronidase enzyme protein product. of 2001, 52 different mutations in idua gene have been shown cause hurler syndrome.

because hurler syndrome autosomal recessive disorder, affected persons have 2 non-working copies of idua gene. if born 1 normal , 1 defective copy of gene (s)he called carrier , produce less α-l-iduronidase individual 2 normal copies of gene. reduced production of enzyme in carriers, however, remains sufficient normal function , person should not show symptoms of disease.