PKU: Sentenced to a Restricted Diet?

Abstract:  This case explores the reasons for why a healthy infant at birth starts to have cognitive deficiencies soon after birth. Early intervention by prenatal screening can be implemented to prevent these deficiencies. The case begins with watching an interview with Kristin, a person living with the disease PKU. Molecular explorations in the case focus on understanding the structural basis of the cause, heredity, long-term impact of possible mutation of the enzyme Phenylalanine Hydroxylase and current treatments. Molecules explored:The primary molecule studied in this case is the enzyme Phenylalanine Hydroxylase (PAH).  Visualization and explorations of two mutations are explored with options to explore other mutations of the PAH enzyme.