Exam 10: From Proteins to Phenotypes

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What substance accumulates in the blood of people with galactosemia?

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There are no mandatory screening programs for genetic defects such as PKU and galactosemia in newborns.

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In humans, ____________________ of the 20 amino acids are "non-essential" amino acids.

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Genetic goitrous cretinism is caused by lack of the enzyme to synthesize ____________________ from phenylalanine.

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Hydroxyurea has been shown to switch off cell division.

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Phenylketonuria is a result of a deficiency of the enzyme ____________________.

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Dietary treatment of galactosemia

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Which one of the following is NOT a symptom of PKU?

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Discuss therapeutic approaches in metabolic diseases.

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Discuss the various possible effects of the loss of the activity of an enzyme.

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The research of which of the following scientists showed that genetic disorders and abnormal metabolism are related?

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The compound that Dr. Folling isolated from the urine of the Egeland children was ____________.

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The drug used to treat sickle cell anemia that causes elevated levels of fetal hemoglobin is ____________.

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Linus Pauling is credited with work that established ____________________ as the first "molecular disease."

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Beta thalassemia is most often caused by

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People who can taste PTC have been shown to be more likely than non-tasters to dislike broccoli and Brussels sprouts.

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Why do you think some heterozygotes produce only half the normal amount of a given enzyme and yet have a normal phenotype?

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Antonio is 27, has a severely enlarged liver, and has a kidney infection. The inherited disease Antonio has is most likely ____________.

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