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Unit Code 80945:
Iduronate Sulfatase, Fibroblasts

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Useful For

Diagnosis of Hunter syndrome

Clinical Information

Iduronate Sulfatase specifically removes the sulfate group from

the C-2 position of L-iduronic acid present in dermatan sulfate

and heparan sulfate.

 

A deficiency of iduronate sulfatase causes mucopolysac-

charidosis II (Hunter syndrome). The disease has a severe

and mild form which can only be differentiated clinically. (The

level of iduronate sulfatase deficiency is similar in both forms.)

The severe type Hunter syndrome is characterized by

coarse facial features, short stature, skeletal deformities,

joint stiffness, and mental retardation.  Onset occurs between

2-4 years with progressive neurological and somatic

involvement.  Severe retinal degeneration usually occurs.

Death occurs between 10-15 years of age. The mild type

of Hunter syndrome preserves the intelligence and patients

survive into later adult life. Somatic features can develop

similar to those of the severe type but at a greatly reduced rate

of progression.

 

Hunter syndrome is the only mucopolysaccharide with an X-linked

pattern of inheritance.  All others are autosomal recessive.

Reference Values

0.15-0.86 nmol/hour/mg

Interpretation

Values near zero suggest Hunter syndrome.

Cautions

The test cannot be used to establish carrier status for Hunter

syndrome.

 

The only result that has meaning in terms of disease is a value

at/or near zero.

Special Instructions and Forms

• Lysosomal Storage Disorders 

Clinical Reference

Wasteson A, Neufeld EF:  Iduronate sulfatase from human plasma.

Meth Enzymol 1982;83:573-578

Key