Phenylketonuria or PKU is caused by lack of an enzyme called phenylalanine hydroxylase. The enzyme converts the amino acid phenylalanine into another amino acid called tyrosine. Being deficient in ...

It’s dinnertime on a Wednesday evening in June at the Wards’ house in Whitman, Massachusetts. As Karen Ward calls her three kids to the table, her husband, Patrick, prepares a special plate for their ...

There is no specific cure for phenylketonuria. The condition results from the overloading of phenylalanine that the body is unable to metabolize due to lack of enzyme Phenylalanine hydroxylase. This ...

Drexel University researchers and an international group of scientists have made a critical step toward understanding a disorder that affects patients from birth into adulthood. Phenylketonuria, or ...

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.

Untreated phenylketonuria (PKU), one of the most common human genetic disorders, usually results in mental retardation. Although a protein-restricted artificial diet can prevent retardation, dietary ...

What Is Sephience, and Why Does It Matter? Sephience (sepiapterin) is a new oral medication approved by the FDA to treat a rare inherited condition known as phenylketonuria (PKU) in adults and ...

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.

Phenylketonuriam, or PKU, is a rare inherited disorder that could cause intellectual disabilities One in every 15,000 babies a year are born with it in the United States People with PKU must maintain ...

Phenylketonuria (PKU) is a rare newborn genetic disease that impacts between 1 in 10,000 to 1 in 20,000 people, depending on the individuals' genetic ancestry. PKU causes an amino acid—called ...

NOVATO, Calif., Aug 17, 2010 /PRNewswire via COMTEX/ -- BioMarin Pharmaceutical Inc. announced today that the first subject has initiated treatment in a Phase 3b study (PKU-016) to evaluate the ...

Sometimes highly impactful serendipitous discoveries are made when performing genetic loss-of-function studies that were initially focused on putative tumor suppressors or other hypotheses.