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.

A Pinellas County mother of a 4-year-old boy diagnosed with a rare metabolic disorder is pushing for more accessible medical food. One in 25,000 people in the U.S. are diagnosed with 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.

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 ...

MDH says early identification and treatment is key to slowing the progression of symptoms as well as extending and improving ...

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 ...

Japan's Otsuka Pharma has agreed to take control of US biotech Jnana Therapeutics in a deal that will give it rights to a clinical-stage candidate for the rare metabolic disorder phenylketonuria ...

Codexis has pursued this path with the development of CDX-6114, an orally administered enzyme for the potential treatment of the orphan metabolic disorder phenylketonuria (PKU). PKU is an inborn ...

The global amino acid assay kit market is poised for significant growth, driven by increasing applications in clinical ...