Previous studies have shown that genotype correlates with biochemical phenotype in treated phenylketonuria. If there is a strong correlation between genotype and intellectual phenotype of untreated ...

NEW YORK (Reuters Health) - For women with the rare genetic disorder phenylketonuria, a new study highlights the importance of sticking with therapy before and during pregnancy. People with ...

PKU owing to Phe hydroxylase deficiency is one of the most common inborn errors of metabolism. Different recommendations do exist concerning the treatment (1–3). The Phe hydroxylase gene can be mapped ...

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.

BioMarin Pharmaceutical Inc. (NASDAQ:BMRN) released topline data from the Phase 3 PEGASUS trial evaluating Palynziq (pegvaliase-pqpz) compared to diet alone in 55 adolescents aged 12-17 with ...

A medical mystery is solved after 60 years. Sixty-two-year-old Cindi met the love of her life in the mid-1960s. "I grew up here. I went to the Air Force and met Cindi at a church function," said her ...

PORTLAND, Ore. — After 10 years of clinical trials, the Food and Drug Administration in May approved a new drug to treat the genetic disorder, phenylketonuria, (feanal-keto-nuria) or PKU. A Vancouver ...

Researchers in Germany recently evaluated executive functions in 36 patients who were diagnosed with PKU during childhood. Significant negative correlations were observed between elevated childhood ...

WARREN, N.J., June 23, 2025 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that Sephience™ (sepiapterin) was granted marketing authorization by the European Commission for the ...