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BF metabo disorders
| Question | Answer |
|---|---|
| Phenylketoneuria(PKU) | autosomal recessive, no gene for phynylalanine hydroxylase |
| Phenylketonueria(PKU) | cannot convert phynylalanine to Tyrosine |
| Phenylketonueria(PKU) | mousy odor of urine |
| Phenylketonueria(PKU) | increased amounts of keto acids including phynylpyruvate |
| Phenylketonueria(PKU) | decreased production of tyrosine and melanin |
| Phenylketonueria(PKU) | Guthrie test, ferric chloride test |
| Tyrosyluria | 5-hydroxyindoleacetic acid deficiency, tyrosine and leucine crystals in urine, Nitroso-Napthol test |
| Melanuria | Increased urinary melanin, indicates overproliferation of melanocytes producing a malignant melanoma |
| Melanuria | Ferric chloride test, Sodium nitroprusside test, Ehrilich reagent |
| Alkaptonuria | Deficiency of homogentistic acid oxidase, brown-stained cloth diaperseventually lead to arthritis, unpreserved urine darken upon standing |
| Phenylalanine cannot be converted to anything | PKU |
| Phenylalanine is converted to Tyrosine and stops | Tyrosinuria |
| Phenylalanine is converted to Tyrosine, then goes to another pathway to produce Melanine producing too much melanine | Melanuria |
| Phenylalanine is converted to Tyrosine, then converted to Homogentisic acid, stops. | Alkaptonuria |
| Normally, Tryptophan is converted to... | Indole |
| Indicanuria | intestinal disorders increase amounts of tryptophan are converted to excess indole and indican |
| what is 5-Hydroxyindoleacetic Acid | degradation product of serotonin produced from tryptophan |
| elevated level of 5-Hydroxyindoleacetic Acid | produced by excess serotonin, argentaffin tumors |
| elevated level of 5-Hydroxyindoleacetic Acid | nitrous acid and 1-nitroso-2-naphtol in urine produces purple to black color |
| What kinds of food contain serotonin? | bananas, pinapples, tomatoes |
| blue diaper | Hartnup disease, Indicanuria |
| Maple Syrup Urine Disease | no gene for the enzyme to break down keto acids transaminated from leucine, isoleucine and valine. |
| Maple Syrup Urine Disease | 2,4-dinitrophenylhydrazine(DNPH)test for keto acids, strong brown sugar odor |
| Organic Acidemias | "sweaty feet" odor of urine, no urine screening test for isovaleryglycine |
| Cystinuria | elevated amounts of cystine in the urine, inability of the renal tubules to reabsorb cystine, blood positive |
| Cystinuria | sulfur odor |
| Cystinuria | sodium cyanide, nitroprusside |
| Homocystinuria | Defects in the metabolism of methioine |
| Homocyctinuria | cyanide-nitroprusside test, silver-nitroprusside test |
| Porphyrias | inherited or acquired, hepatic malfunctions or lead poisoning |
| Porphyrias | port wine urine color |
| Porphyrias | Ehrilich test, Watson-Schwartx test, hoesch test |
| Lesch-Nyhan disease | purine disorder, sex-linked, accumulation of uric acid |
| Lesch-Nyhan disease | Orange sand in diapers |
| Lesch-Nyhan disease | uric acid crystals |
| What would you suspect if you see reagent strip negative and Clinitest positive? | Galactosuris |
Created by:
hiroko lucky
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