Describe the defect in metabolism responsible for the disorder identifying any enzyme(s) involved. Analyze the symptoms of the disease based on the metabolic disturbance. Discuss therapy available for treatment of the disorder. Does the therapy treat the symptoms or the metabolic nature of the disease? Explain.

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lalithashwin156Lv10

7 May 2023

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Related questions

For Leighâs Disease answer the following:

Describe the symptoms/outcomes of the disorder.

Identify the organelle that is affected.

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Based on what you have learned about cell structure, predict how a cell from this disorder would look like under the microscope.

Based on the cell biology, what options do you have to treat the disorder?

2. Familial incontinentia pigmenti (IP) is an X-linked dominant disorder that causes a disturbance of skin pigmentation and can be associated with malformations of the eyes, teeth. and skeleton. The disorder is most often lethal prenatally in males.

a. If a woman who exhibits IP marries a man with no family history of the disease, what is the probability that they will have a child with the disease? Please explain how you determine this probability (3 points)

b. Continuing with the previous problem, the couple's first child is a girl who does not exhibit this disorder. Given that the mother has the disorder, the couple is quite informed about the disorder. After the ultrasound of their second child, they are told that they are expecting a boy. The couple is quite concerned that the woman will not be able to carry the baby to term. However, she is able to give birth to a baby boy. After a week, the couple starts to notice symptoms of IP on the skin of their baby boy. The couple is concerned that their son might die soon. This does not happen. The child is currently two years of age and does not suffer from the disorder. How is this possible? Please explain in 3-4 sentences based upon topics being covered for this exam. (3 points)