Medically reviewed by Aviv Joshua, MS, RDN Phenylalanine is an essential amino acid (building block of protein) that the body ...

PTC Therapeutics, Inc. (NASDAQ: PTCT) today shared new data being presented from the Phase 3 APHENITY trial and subsequent open-label extension study at the 2025 American College of Medical Genetics ...

BioMarin Pharma has had another setback in its gene therapy development programme, announcing this morning that the FDA has placed a phase 1/2 trial of its candidate for phenylketonuria (PKU ...

A rare disease in the US is one in 1,500, or fewer than 200,000 people, and an ultra-rare disease is one in 50,000 or fewer than than 6,000 people.

The US Food and Drug Administration (FDA) has approved biotech BioMarin’s Palynziq (pegvaliase-pqpz) for adults with the rare and serious genetic disease phenylketonuria (PKU). Patients with PKU ...

A new study suggests early detection improves outcomes, but metabolic episodes in the first days of life still prove ...

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 ...

BioMarin's gene therapy pipeline has had setbacks, including a three-year delay in US approval of Roctavian and stalled development of PKU gene therapy BMN 307 as the Food and Drug Administration ...

BioMarin's gene therapy pipeline has had setbacks, including a delay in US approval of Roctavian and stalled development of PKU gene therapy BMN 307 as the Food and Drug Administration halted a ...