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 ...

The ability to identify patients with phenylketonuria (PKU) at birth—and to treat them with low-phenylalanine diets—has resulted in a “much better outcome for individuals with PKU than before,” says ...

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 ...

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.

The study, published this week (August 13) in Nature Biotechnology, reveals that the probiotic can significantly lower Phe levels in both mouse models of phenylketonuria (PKU) and in healthy monkeys.

We analyzed mutations, RFLP haplotypes (H), and a VNTR polymorphism at the phenylalanine hydroxylase locus (PAH) in 12 French-Canadian patients with phenylketonuria (PKU) from the eastern region ...

Considering taking supplements to treat phenylketonuria pku? Below is a list of common natural remedies used to treat or reduce the symptoms of phenylketonuria pku. Follow the links to read common ...

A Pinellas County mother is in a desperate fight to keep her 4-year-old son healthy. Gideon Bennett has a rare genetic ...

Medically reviewed by Allison Herries, RDN L-tyrosine is an amino acid that's often used in supplements to improve cognitive ...

Genzyme Corp. (Sanofi Genzyme) has disclosed sodium-dependent neutral amino acid transporter B(0)AT1 (SLC6A19) inhibitors reported to be useful for the treatment of phenylketonuria, among others.

Other examples of features that show environmental variation include: Phenylketonuria (PKU) is an example of how the genes and the environment may work together. The disease is caused by a buildup ...