Phenylketonuria Case Study
The traditional phenylketonuria (PKU) is an example of inborn errors in metabolism and this is categorized by a total lack of an enzyme called phenylalanine hydroxylase, this enzyme usually converts phenylalanine to tyrosine, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684467/ if this conversion doesn’t take place in causes the blood to build up with phenylalanine causing a problem in the urinary tracks. The genetic disorder causes mutilation of brain development, follow-on with mental retardation if a child is not treated. This disorder is an autosomal recessive this means two copies of an abnormal gene must be there for the disease to develop and this is found on the chromosome 12.
In this experiment the tyrosine was measured by an spectroscopy …show more content…
Agitate the samples was occasionally flicked on the sides (with lid on!) with a finger. The sample was then Centrifuged for a 1 minute at 3000rpm, 100µl of each sample was added into 2 labelled, 1.5ml eppendorf tubes and the tubes was labelled according to patients starting from 1a and 1b, 2a and 2b, 3a and 3b, then 100ul of the positive control sample was placed in two tubes labelled “positive control a” and “positive control b”. This should give 8 tubes and the ninth tube was labelled ‘Negative control. all the sample tubes 1b, 2b, 3b and positive control b, 0.5 ml of reagent 1 and 50 µl of reagent 2 and 0.5ml of saline was added ,and To the sample tubes 1a, 2a and 3a and positive control a, 1.0 ml of 0.9% saline and 50 µl of reagent 2 was added to them and To the negative control tube, 600 µl 0.9% saline, 0.5 ml reagent 1 and 50 µl reagent 2 was added and all 9 tubes were placed in 37oC water bath for 15 minutes to allow the reaction to finish, the sample mixtures were transferred into separate cuvettes. The negative control tube was used to blank the spectrophotometer and the absorbance of all the solutions was recorded at 340nm.the Record the results of all samples were placed in the table and Calculated the ratios of Tyrosine (a/b) in the
In this experiment the tyrosine was measured by an spectroscopy …show more content…
Agitate the samples was occasionally flicked on the sides (with lid on!) with a finger. The sample was then Centrifuged for a 1 minute at 3000rpm, 100µl of each sample was added into 2 labelled, 1.5ml eppendorf tubes and the tubes was labelled according to patients starting from 1a and 1b, 2a and 2b, 3a and 3b, then 100ul of the positive control sample was placed in two tubes labelled “positive control a” and “positive control b”. This should give 8 tubes and the ninth tube was labelled ‘Negative control. all the sample tubes 1b, 2b, 3b and positive control b, 0.5 ml of reagent 1 and 50 µl of reagent 2 and 0.5ml of saline was added ,and To the sample tubes 1a, 2a and 3a and positive control a, 1.0 ml of 0.9% saline and 50 µl of reagent 2 was added to them and To the negative control tube, 600 µl 0.9% saline, 0.5 ml reagent 1 and 50 µl reagent 2 was added and all 9 tubes were placed in 37oC water bath for 15 minutes to allow the reaction to finish, the sample mixtures were transferred into separate cuvettes. The negative control tube was used to blank the spectrophotometer and the absorbance of all the solutions was recorded at 340nm.the Record the results of all samples were placed in the table and Calculated the ratios of Tyrosine (a/b) in the