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10 Cards in this Set
- Front
- Back
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 (cannot fully metabolize phenylalanine)
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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 gluconeogenesisby 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 (niacin deficiency-pellegra and B1 Thiamin deficiency-->Wernicke-Korsikoff syndrome)
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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--> Homogenistic acid oxidase deficiency--> can't metabolize tyrosine or phenylalanine
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25 year old man complains of severe chest pain and has xanthomas of his Achilles tendon. What is the disease and where is the defect?
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1) Familial hypercholesterolemia
2) 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 or Glycogen storage disease V--> deficiency in muscle phosphorylase leading to accumulation of glycogen
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2 parents with albinism have a son who is normal . What genetic mechanism can 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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1) Duchenne's muscular dystrophy
2) X-Linked recessive |