Research Matrix for Genetic Disease PKU Case Study

Research Matrix for Genetic Disease PKU Case Study

Research matrix- Phenylketonuria (PKU) Level Normal function Change in disease Treatment/management DNA Protein and Function Organism Population Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function DNA PAH gene codes for phenylalanine hydroxylase Change in disease Treatment/management Protein and Function Organism Population Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function DNA PAH gene codes for phenylalanine hydroxylase Protein and Function enzyme that metabolises phenylalanine (phe) Change in disease Treatment/management Organism Population Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function Change in disease DNA PAH gene codes for phenylalanine hydroxylase 500 different mutations. Autosomal recessive Protein and Function enzyme that metabolises phenylalanine (phe) Treatment/management Organism Population Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function Change in disease DNA PAH gene codes for phenylalanine hydroxylase 500 different mutations. Autosomal recessive Protein and Function enzyme that metabolises phenylalanine (phe) Low enzyme activity. Phe builds up and damages cells. Treatment/management Organism Population Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function Change in disease DNA PAH gene codes for phenylalanine hydroxylase 500 different mutations. Autosomal recessive Protein and Function enzyme that metabolises phenylalanine (phe) Low enzyme activity. Phe builds up and damages cells. Organ Nerve damage Brain damage Organism Intellectual disability, seizures Treatment/management Population Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function Change in disease DNA PAH gene codes for phenylalanine hydroxylase 500 different mutations. Autosomal recessive Protein and Function enzyme that metabolises phenylalanine (phe) Low enzyme activity. Phe builds up and damages cells. Organ Nerve damage Brain damage Organism Intellectual disability, seizures Treatment/management Avoiding Phe avoids cell damage (low protein diet) Population Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function Change in disease DNA PAH gene codes for phenylalanine hydroxylase 500 different mutations. Autosomal recessive Protein and Function enzyme that metabolises phenylalanine (phe) Low enzyme activity. Phe builds up and damages cells. Organ Nerve damage Brain damage Organism Intellectual disability, seizures Treatment/management Avoiding Phe avoids cell damage (low protein diet) Normal IQ if diet started early and maintained Population Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function Change in disease DNA PAH gene codes for phenylalanine hydroxylase 500 different mutations. Autosomal recessive Protein and Function enzyme that metabolises phenylalanine (phe) Low enzyme activity. Phe builds up and damages cells. Organ Nerve damage Brain damage Organism Intellectual disability, seizures Population Treatment/management Avoiding Phe avoids cell damage (low protein diet) Normal IQ if diet started early and maintained Screening of newborns Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function Change in disease DNA PAH gene codes for phenylalanine hydroxylase 500 different mutations. Autosomal recessive Protein and Function enzyme that metabolises phenylalanine (phe) Low enzyme activity. Phe builds up and damages cells. Avoiding Phe avoids cell damage (low protein diet) Organ Nerve damage Brain damage Detect high Phe in blood. Organism Intellectual disability, seizures Normal IQ if diet started early and maintained Population Treatment/management Screening of newborns Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria

Research matrix- Phenylketonuria (PKU) Level Normal function Change in disease Treatment/management DNA PAH gene codes for phenylalanine hydroxylase 500 different mutations. Autosomal recessive Protein and Function enzyme that metabolises phenylalanine (phe) Low enzyme activity. Phe builds up and damages cells. Avoiding Phe avoids cell damage (low protein diet) Organ Nerve damage Brain damage Detect high Phe in blood. Organism Intellectual disability, seizures Normal IQ if diet started early and maintained Population 1 in 10, 000 to 15, 000 newborns born with PKU Screening of newborns Source: U. S National Library of Medicine (2018) Phenylketonuria Genetics Home Reference https: //ghr. nlm. nih. gov/condition/phenylketonuria