Question

Imagine that you are a geneticist and that you are just starting your practice. To help your patients, please create a brochure on a genetic disorder that will be displayed in your waiting room. Your pamphlet must include: Name of the disorder -Sly Syndrome (Mucopolysaccharidosis Type VID) Describe the condition. How does it affect the body? Identify the gene on which the disorder is located and the chromosome on which the gene is located. Is the disorder a problem with the gene/chromosome or is it a disease carried by a gene? How many people have it in the U.S./World? What is the life span of the person with the disorder? What is the likelihood that it will be passed on to their children? What treatments are given to the person with the condition?

Answer 1

Sly syndrome.

1. A disorder of mucopolysaccharide metabolism characterized by short stature, coarsening of the facial features, clouding of the cornea, striking enlargement of the liver and spleen, skeletal abnormalities, and intellectual deterioration resulting in moderately severe mental retardation.

The sly syndrome causes various musculoskeletal abnormalities that worsen with age. These can include short stature, joint deformities, dysostosis multiplex, spinal stenosis, and carpal tunnel syndrome. While some individuals have developmental delays, others may have normal intelligence.

2. The sly syndrome is caused by the deficiency of the enzyme beta-glucuronidase, and it was the first MPS for which the altered gene was localized to an autosome chromosome, the long arm of chromosome 7.

3. It occurred with the problem in the gene coding for enzyme beta-glucuronidase.

4. MPS VII is extremely rare, affecting only about one in 250,000 births. Fewer than 100 cases have been reported in the United States. Males and females are affected in equal numbers.

5. The life expectancy of individuals with MPS VII depends on the severity of symptoms. Some affected individuals do not survive infancy, while others may live into adolescence or adulthood.

6. Since it occurs due to alteration in the autosomal gene, it can't be passed on to the children.

7. Enzyme replacement therapy

The US Food and Drug Administration (FDA) has approved vestronidase alfa-vjbk (Mepsevii) for the treatment of Sly syndrome (mucopolysaccharidosis type VII [MPS VII]) in pediatric and adult patients.