Mucopolysaccharidosis type I
Mucopolysaccharidosis type I Causes
People with the disease are unable to make a substance called lyosomal alpha-L-iduronidase. It is also inherited.
Mucopolysaccharidosis type I Definition
Also known as mucopolysaccharidosis type I, Hurler syndrome is a genetic disorder that results in the deficiency of alpha-L iduronidase. It is an enzyme that breaks down mucopolysaccharidosis in the lyosomes. A buildup of heparan sulfate and dermatan sulfate occurs in the bosy without said enzyme. Hurler syndrome is often classified as a lyosomal storage and is clinically related to Hunter's Syndrome.
Mucopolysaccharidosis type I Diagnosis
The first step in diagnosing the disease is thru a urine test since it may show extra mucolopolysaccharides.
Mucopolysaccharidosis type I Symptoms and Signs
Appearing mostly in children ages 3 to 8, symptoms include thick coarse facials features with low nasal bridge, halted growth, progressive mental retardation, cloudy corneas, deafness, joint disease including stiffness, heart valve problems, claw hand, and abnormal bones in the spine.
Mucopolysaccharidosis type I Treatment
Therapies that may replace the enzyme and help the boy make alpha-L-idurodinase and a bone marrow transplant are the available treatments for the disease. Other procedures may be conducted depending on the organs that are affected.