| Molecular heterogeneity for PKU results in wide phenotypic heterogeneity, which contributes to biochemical individuality. |
| Discovery of new candidate genes for ovarian cancer, novel enzyme treatment for PKU, early identification of retinoblastoma. |
| The only treatment currently available for PKU patients is a highly restrictive and expensive medical food diet that most patients fail to adhere to the extent needed for achieving adequate control of blood Phe levels. |
| Children and adults with PKU require follow-up care at a medical center or clinic that specializes in this disorder. |
| Under the tutelage of Dr. Charles Scriver, she created a registry of female patients with PKU, a genetic disorder that can put the foetus of an affected woman at risk for congenital malformation. |
| People with PKU are unable to properly metabolize the amino acid, phenylalanine. |
