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10 Cards in this Set
- Front
- Back
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Full-term neonate of an uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the diagnosis?
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PKU
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Stressed executive comes home from work, consumes 7 or 8 martinis in rapid succession before dinner and becomes hypoglycemic. What is the mechanism?
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NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
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2-year-old girl has an increase in abdominal girth, failure to thrive, and skin and hair depigmentation. What is the diagnosis?
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Kwashiorkor
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Alcoholic develops a rash, diarrhea and altered mental status. What is the vitamin deficiency?
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Vitamin B3 (Pellegra)
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51-year-old man has black spots in his sclera and has noted that his urine turns black upon standing. What is the diagnosis?
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Alkaptonuria
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25-year-old man complains of severe chest pain and has xanthomas of his Achilles tendons. What is the disease and where is the defect?
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Familial hypercholesterolemia; LDL receptor
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Woman complains of intense muscle cramps and darkened urine after exercise. What is the diagnosis?
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McArdle's disease
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2 parents with albinism have a son who is normal. What genetic mechanism could explain why the son is not affected?
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Locus heterogeneity
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40-year-old man has chronic pancreatitis with pancreatic insufficiency. What vitamins are likely deficient?
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A, D, E and K
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Child exhibits weakness and enlarged calves. What is the disease and how is it inherited?
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Duchenne's muscular dystrophy; x-linked recessive.
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