Cutting the federal newborn screening advisory committee either demonstrates a lack of understanding of the group’s function ...

PKU is a rare genetic disorder that prevents the body from breaking down Phe, an amino acid found in protein-rich foods, leading to toxic levels that can cause severe neurological damage.

A Pinellas County mother of a 4-year-old boy diagnosed with a rare metabolic disorder is pushing for more accessible medical ...

Synthetic biology specialist Synlogic will start phase 3 testing of a drug for rare metabolic disorder phenylketonuria (PKU) next year, after reporting solid proof-of-concept data.

Pegvaliase statistically significantly lowered blood Phe levels in adolescents with PKU compared with diet alone. Topline data were announced from a phase 3 trial evaluating pegvaliase-pqpz in ...

Drops of blood, filter paper, bacteria, a bacterial inhibitor, and a baking dish—that’s all it took for microbiologist Robert Guthrie to develop a basic test for phenylketonuria, a genetic metabolic ...

Phenylketonuria [PKU] is an inherited disorder, whereby an amino acid, known as phenylalanine, builds up in the patient's body. This toxic build-up of this amino acid in the body leads to serious ...

Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns. The PKU-associated enzyme deficiency was determined biochemically in the ...

This growth in the historic period is fueled by factors such as enhanced newborn screening programs, burgeoning awareness regarding metabolic disorders, efficient PKU dietary management ...