AllRefer Health - Hurler Syndrome Diagnosis & Tests (Alpha-L-Iduronate Deficiency, MPS I, Mucopolysaccharidosis Type I)

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You are here : AllRefer.com > Health > Diseases & Conditions > Hurler Syndrome: Diagnosis, Tests, & Signs of Hurler Syndrome

Hurler Syndrome


•	Definition
•	Overview, Causes, & Risk Factors
•	Symptoms & Signs
•	Prevention
•	Diagnosis & Tests
•	Treatment
•	Expectations or Prognosis
•	Complications
•	Support Groups
•	Calling Your Health Care Provider
•	Pictures & Images
•	Go To Main Page

Alternate Names : Alpha-L-Iduronate Deficiency, MPS I, Mucopolysaccharidosis Type I

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Hurler Syndrome Diagnosis & Tests

Hepatomegaly
Splenomegaly
Inguinal hernia
Flared nostrils
Epicanthal folds
Enlarged tongue
Retinal pigmentation
Hip dislocation
Vertebral wedging
Kyphosis
Heart murmurs
Heart valve damage from thickening

Tests that may indicate the syndrome is present include:

Increased excretion of dermatan sulfate and heparan sulfate in the urine
Absence of lysosomal alpha-L-iduronidase (in cultured fibroblasts)
Culture of cells from amniotic fluid obtained by amniocentesis for enzyme testing (prenatal testing)
Abnormal histologic staining of white blood cells called metachromasia
X-ray of the skeleton
X-ray of the spine
X-ray of the chest
ECG

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• Definition
• Hurler Syndrome Overview, Causes, & Risk Factors
• Hurler Syndrome Symptoms & Signs
• Hurler Syndrome Prevention
• Hurler Syndrome Diagnosis & Tests
• Hurler Syndrome Treatment
• Hurler Syndrome Prognosis
• Hurler Syndrome Complications
• Hurler Syndrome Support Groups
• Calling Your Health Care Provider
• Pictures & Images

Review Date : 8/27/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

Main Page of Hurler Syndrome

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