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 ...

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 ...

Genetic disease characterized by mental retardation, light skin, and eczema; caused by mutations in the gene that encodes phenylalanine hydroxylase (PAH), a liver enzyme that normally metabolizes ...

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 ...

Rare genetic variations in the phenyalanine hydroxylase gene are primarily responsible for the condition. [9] Individuals with PKU can develop neurological damage from excess phenylalanine [10 ...

One example is a disease called phenylketonuria (PKU). It is caused by a change in the PAH gene. The PAH gene contains the information required to make the enzyme which breaks down phenylalanine ...