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11 Cards in this Set
- Front
- Back
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A full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the dx?
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PKU
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A 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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Increase in NADH prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
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A 2 year-old girl has an increase in abdominal girth, failure to thrive, and skin and hair depigmentation. What is the dx?
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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 (pellagra)
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A 51-year-old man has black spots in his sclera and has noted that his urine turns black upon standing. What is his dx?
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Alkaptonuria
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A 25-year-old male complains of severe chest pain and has xanthomas of his Achilles tendons. What is the dz and where is the defect?
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Familial hypercholesterolemia; LDL receptor
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A woman complains of intense muscle cramps and darkened urine after exercise. What is the dx?
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McArdle's Dz
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Two parents with albinism have a son who is normal. Why is the son not affected?
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Locus heterogeneity
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A 40-year-old man has chronic pancreatitis with pancreatic insufficiency. What vitamins are likely deficient?
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A,D,E,K
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What syndrome is caused by a defect in microtubule polymerization resulting in decreased phagocytosis?
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Chediak-Higashi
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Adenosine deanimase deficiency can cause what other major immunologic complication?
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SCID
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