Biochem-Nitrogen Metabolism Disorders-WVSOM Class of 2012
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
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| deficient enzyme in pku? | phenylalanine hydroxylase
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| most common disorder of amino acid metabolism? | pku
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| Mental retardation, delayed development, hyperactivity, tremor, hypopigmentation are all symptoms of what disease? | pku
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| diet prescribed in pku? | phenylalanine is restricted, tyrosine is supplemented
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| albinism is caused by deficiency in what enzyme? | tyrosinase
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| alkaptonuria is caused by deficiency in what enzyme? | homogentisate oxidase deficiency
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| what is a symptom of alkaptonuria? | urine darkens over time, osteoarthritis
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| what is the diet regimen of alkaptonuria? | restrict phenylalanine and tyrosine
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| what is tested for in alkaptonuria? | homogentisate can be detected in the urine
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| what is tested for in hyperhomocystinemia? | elevated homocysteine and methionine
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| what enzyme is deficient in hyperhomocystinemia? | cystathionine synthase
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| physical findings in homocystinuria? | Causes lens displacement, skeletal abnormalities, premature arterial disease, mental retardation
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| treatment of homocystinuria? | B6, B12, folate supplement; methionine restriction
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| what are test values for otc deficiency? | hyperammonemia; increased urinary orotic acid
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| early symptoms of otc deficiency? | vomiting, hypotonia, seizures, lethargy, cerebral edema, coma
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| late symptoms of otc deficiency? | headache after a high protein meal, disorientation, irritability
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| which disease would present in infant males sooner than adult women? | otc deficiency
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| what would be a dietary treatment in otc? | low protein diet
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| what are symptoms of hyperammonemia? | tremors, slurring of speech, blurred vision, vomiting, somnolence, coma
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| elevated leucine in blood and maple syrup urine are indicative of what? | msud
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| what is deficient in msud? | a-ketoacid dehydrogenase deficiency
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| what are physical symptoms of msud? | feeding problems, vomiting, dehydration
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