Every two to four weeks, Connor Delaney pricks his finger with a 3-inch lancet. He takes the sample of blood and smears just enough into each of the designated circles onto the screening pamphlet.

Dinner at Kristi and Matt Smith's home in Tucson, Arizona, is always a bit of a production. As their boys rabble-rouse, the parents are meticulously measuring every ounce of food that will go on their ...

PHOTO CONTRIBUTEDJosie Miller is pictured in a recent run at Lakeland High School for pledges to contribute to the Armenian children with the phenylketonuria (PKU) disorder. This Saturday Miller has ...

When Kristi Smith was a newborn, her parents were told their daughter had Phenylketonuria (PKU), a rare genetic disorder that, when left untreated, can cause intellectual disabilities, seizures and ...

NEW CUMBERLAND, Pa. (WHTM) – A Cumberland County family is bringing awareness to a rare genetic disorder called PKU. One in ten thousand children has it. Zoe Hoover is a bubbly, bright, big smiled ...

PKU or Phenylketonuria is a genetically inherited condition. PKU occurs due to the lack of an enzyme called phenylalanine hydroxylase. This enzyme is a protein. Consequently, it is synthesized based ...

The US Food and Drug Administration (FDA) has approved PTC Therapeutics’ Sephience (sepiapterin) to treat the rare metabolic disorder phenylketonuria (PKU). The drug has been authorised in combination ...

Babies get tested for many things right after they are born. The heel prick includes a test for phenylketonuria (PKU), a rare birth defect that causes a certain amino acid to build up in the body. Dr.

NEW HAVEN — When her fiancé opened a barbecue smokehouse and pizzeria in March, Brittany Holmes ordered the carnivorous pizza — pepperoni, sausage, bacon and meatball. Before she started taking the ...

Researchers at The University of Texas MD Anderson Cancer Center have discovered a critical new factor in regulating phenylalanine metabolism and, therefore, in preventing the inherited metabolic ...

BOSTON--(BUSINESS WIRE)--Jnana Therapeutics, a clinical-stage biotechnology company leveraging its next-generation chemoproteomics platform to discover medicines for challenging-to-drug targets, will ...

Phenylketonuria (PKU) and several other inherited metabolic diseases (IMD) require a lifelong low-protein diet (LPD), otherwise they lead to many health complications. LPDs, however, carry a ...