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Biochem-Nitrogen Dis
Biochem-Nitrogen Metabolism Disorders-WVSOM Class of 2012
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 |