PKU is a rare congenital metabolic disorder that results in the accumulation of the amino acid phenylalanine in body fluids and the nervous system. The abnormal accumulation of amino acid in a child’s ...

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.

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 ...

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 ...

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 ...

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 ...

Alexa Beichler says switching her boys' medical grade formula to another brand is nearly impossible as the transition can take weeks Anya Leon is a Senior News Editor and the Parents Editor for PEOPLE ...

Alexa Beichler, whose sons were born with classic phenylketonuria (PKU) and need medical-grade formula, finally got a new shipment after stretching what they had left amid the shortage Georgia Slater ...

SALT LAKE CITY (KUTV) — Twelve-year-old Owen Maxfield is thriving and he's passionate about basketball. His life appears like that of a typical tween but did not come without his mother, Heidi ...

Broad label includes all age groups and full range of PKU subtypes – TORONTO, Dec. 10, 2025 /CNW/ – PTC Therapeutics Canada ULC announced that Health Canada has approved Sephience™ (sepiapterin) ...