Diagnosis

Babies born with Hunter syndrome almost always appear healthy at birth. Changes in facial features are often the first noticeable sign that something's not right.

Blood, urine or tissue samples can be checked for the deficient enzyme or for excess amounts of the complex sugar molecules associated with this disorder. A genetic analysis can confirm the diagnosis.

Because Hunter syndrome progresses slowly and its signs and symptoms overlap with a number of other disorders, definitive diagnosis may take some time.

Prenatal testing

Prenatal testing of the fluid that surrounds the baby (amniocentesis) or of a tissue sample from the placenta (chorionic villus sampling) can verify if your unborn child carries a copy of the defective gene or is affected with the disorder.

Dec. 10, 2015
References
  1. Mucopolysaccharidoses fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm. Accessed Oct. 10, 2015.
  2. Mucopolysaccharidosis type II. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii. Accessed Oct. 10, 2015.
  3. Wynn R. Mucopolysaccharidoses: Clinical features and diagnosis. http://www.uptodate.com/home. Accessed Oct. 10, 2015.
  4. Mucopolysaccharidosis type II. Genetics and Rare Diseases Information Center (GARD). https://rarediseases.info.nih.gov/gard/6675/mucopolysaccharidosis-type-ii/resources/1. Accessed Oct. 10, 2015.
  5. Mucopolysaccharidosis type 2. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580#. Accessed Oct. 10, 2015.
  6. Kumar V, et al. Genetic disorders. In: Robbins and Cotran Pathologic Basis of Disease. 9th ed. Philadelphia, Pa.: Saunders Elsevier; 2015. http://www.clinicalkey.com. Accessed Oct. 10, 2015.
  7. Wynn R. Mucopolysaccharidoses: Complications and management. http://www.uptodate.com/home. Accessed Oct. 10, 2015.
  8. Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 15, 2015.
  9. Litin SC (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 15, 2015.