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ENCYCLOPEDIA INDEX

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Hurler syndrome

Alternative Names:

Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I

Symptoms:

Signs and tests:

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