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