The number of treatments for rare genetic disorders is expected to increase sharply in the next several years.

Phenylketonuria, or PKU, is a rare genetic condition that prevents the body from properly breaking down an amino acid found in protein. Pediatrician Cindy Gellner, MD, explains how the condition is ...

Inspired by his mentally disabled son, Robert Guthrie, MD, PhD, became a tireless advocate for individuals with intellectual handicaps. He devoted much of his career to researching the prevention of ...

Newborns who are diagnosed with phenylalanine hydroxylase deficiency may show no initial symptoms or signs. Over time they may develop symptoms of phenylalanine build-up in the body. In the body ...

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...

Discover the latest articles and news in related subjects. In 1991, the National PKU Collaborative Study reported on the first cohort of 12-year-old children diagnosed through NBS. Patients randomized ...

BALERNA, Switzerland--(BUSINESS WIRE)--APR Applied Pharma Research s.a (APR), the Swiss developer of science driven and patent protected healthcare products, is pleased to share the success of a ...

For a child to get the disorder, both the mother and father must pass down a mutated PKU gene. Although PKU is rare, all newborns in the United States are required to get a PKU test. The test is easy, ...