| 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 |
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