Exam 10: Enzyme and Collagen Disorders

A 12-year-old boy with Marfan syndrome complains to his nurse-practitioner, "My mother won't let me play football or do anything else. Isn't there something Ican do besides sitting and playing video games?" Which of the following activities may be considered less risky for this child to perform? Select all that apply.

If a man with Gaucher type 1 has children with a woman who is a carrier for the disorder, what is the expected risk pattern?

How does intravenous enzyme-replacement therapy for Gaucher disease reduce the organ storage of glucosylceramide?

Which therapeutic option has been found beneficial for patients with Gaucher type 1 disease?

Couples from which ethnic group would derive the greatest benefit from genetic testing for Tay-Sachs disease?

Which manifestation is a characteristic feature of untreated phenylketonuria (PKU)?

Which dietary alterations are necessary to help reduce the complications of phenylketonuria (PKU)?

A woman who is a carrier for Fabry disease has children with a man who does not have the disorder. Their son has the disease, and their daughter also has somesymptomsof Fabry disease even though she could only have inherited one affected allele. What is the explanation for the daughter having some symptoms of Fabry disease?

Why is it important to diagnose Gaucher type 1 disease as soon as possible after birth?

If a man with Fabry disease has children with a woman who is a carrier for the disorder, what is the expected risk pattern?