The topic Hurler-Scheie Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Mucopolysaccharidosis Type I.

Quick Summary:

• Mucopolysaccharidosis Type I (MPS I or Hurler Syndrome) is a rare, genetic metabolic condition that involves an inability of the body to breakdown glycosaminoglycans, which are long chains of sugar molecules. The condition is inherited in an autosomal recessive manner, meaning two copies (one from each parent) of the faulty gene are needed to cause signs and symptoms of the disorder
• The inheritance of the faulty genes prevents the body from producing an enzyme (known as the alpha-L iduronidase enzyme) that is responsible for breaking down the sugar molecules. This inability to breakdown these sugars, causes it to buildup leading to many defects
• Since Mucopolysaccharidosis Type I is genetic, it is present at birth. Significant signs and symptoms are seen between ages 3 to 8 years in children, which include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children
• A healthcare professional can use various diagnostic tools, such as a physical exam, electrocardiogram, urinalysis (analysis of urine), and X-rays of the affected regions, to help diagnose Mucopolysaccharidosis Type I
• There is no cure for Mucopolysaccharidosis Type I; however, the treatment provided is symptomatic. These can include enzyme replacement, bone marrow transplant, and other organ specific treatments
• Prognosis for children with Mucopolysaccharidosis Type I is poor; it often involves death at a young age. Complications, such as nervous system and heart defects, are generally life-threatening that can lead to fatalities

Based on the severity of signs and symptoms, Mucopolysaccharidosis Type I is subdivided into 2 categories:

• Severe type of MPS Type I; when individuals have severe signs and symptoms. The severe type is 5-times more common than the attenuated type
• Attenuated type of MPS Type I; when individuals have less severe or milder signs and symptoms

Please find comprehensive information on Mucopolysaccharidosis Type I regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.