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10 Cards in this Set
- Front
- Back
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What is a metabolic disease to a geneticist?
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An inborn error of metabolism.
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What is the cause of alkaptonuria?
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Black urine is caused by the build-up of homogentisic acid (HGA) as a result of a deficiency in homogentisate 1,2-dioxygenase. (Produces a melanin like substance; a tyrosine disorder.)
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What triad is associated with alkaptonuria?
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HGA in urine, ochronosis, and arthritis
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What's an appropriate treatement for galactosemia?
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Restriction of galactose
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What's an appropriate treatment for PKU?
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restriction of phenylalanine
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What's an appropriate treatment for 21-hydroxylase deficiency CAH?
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supplementation of glucocorticoid with hydroxycortisone and mineralcorticoid with fludrocortsone
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What's an appropriate treatment for Smith-Lemli-Opitz syndrome?
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replacement of dietary cholesterol
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What's an appropriate treatment for MCAD?
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avoidance of fasting
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What's an appropriate treatment for hereditary hemochromatosis?
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phlebotomy
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What's an appropriate treatment for Wilson's disease?
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chelation of excess copper
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