Phenylketonuria Jacob Voudren Emily Barrett Prohibits the conversion

Phenylketonuria Jacob Voudren & Emily Barrett

Prohibits the conversion of phenylalanine to tyrosine

Karyotype & Pedigree Appears the same as any average karyotype 50% of offspring would be carriers, 25% would be normal, 25% would have disease https: //phenylketonuria-awareness. weebly. com/charts. html

Diagnosis - Newborn Screening System 5 - - Usually done 1 to 2 days after child is born Can be tested later in life 6 - Through various blood tests

Newborn Screening Results

Symptoms At Birth 6 1. Increased levels of phenylalanine (phe) A few months old 6 1. Intellectual disabilities 2. Seizures 3. Behavioral Problems https: //www. lebonheur. org/images/photos/physicianmagazine/august-2014/epilepsy-case-study/Grace_02. jpg

Treatment - Management: follow a low-phenylalanine diet - - - Avoid high-protein foods Regular review: - Diet records - Growth charts - Blood levels of phenylalanine Frequent blood tests - Monitor phenylalanine levels

Life Expectancy PKU does not shorten life span of individuals Can cause serious impairments such as mental retardation and nervous system damage

Current Research FDA Approves a New Treatment for PKU: An Enzymatic Treatment Hepatocyte Transplantation Gene and Cell Therapy

References 1. 2. 3. 4. 5. 6. 7. 8. 9. Charts. (n. d. ). Retrieved from https: //phenylketonuria-awareness. weebly. com/charts. html Slightham, C. (2020, January 6). Phenylketonuria: Causes, Symptoms, and Diagnosis. Retrieved from https: //www. healthline. com/health/phenylketonuria#diagnosis Boston Children’s Hospital. Retrieved from www. childrenshospital. org/conditions-andtreatments/conditions/p/phenylketonuria-pku Mayo Clinic. Retrieved from https: //www. mayoclinic. org/diseases-conditions/phenylketonuria/symptoms-causes/syc 20376302? page=0&citems=10 New York State Department of Health. Newborn screening programs. Retrieved from https: //www. wadsworth. org/programs/newborn/screening NIH U. S. Library of Medicine. Phenylketonuria-Genetics Home Reference. Retrieved from https: //ghr. nlm. nih. gov/condition/phenylketonuria (n. d. ). Retrieved from https: //en. wikipedia. org/wiki/Phenylketonuria What are common treatments for phenylketonuria (PKU)? (n. d. ). Retrieved from https: //www. nichd. nih. gov/health/topics/pku/conditioninfo/treatments “RESEARCH OVERVIEW. ” NPKUA, www. npkua. org/Research-Overview.

Phenylketonuria Jacob Voudren & Emily Barrett