We analyzed mutations, RFLP haplotypes (H), and a VNTR polymorphism at the phenylalanine hydroxylase locus (PAH) in 12 French-Canadian patients with phenylketonuria (PKU) from the eastern region ...

Genetic disease characterized by mental retardation, light skin, and eczema; caused by mutations in the gene that encodes phenylalanine hydroxylase (PAH), a liver enzyme that normally metabolizes ...

Novel enzyme therapy will treat adults with PKU who have uncontrolled blood phenylalanine concentrations with current treatment. The US Food and Drug Administration (FDA) has approved biotech ...

The study demonstrated that PKU GOLIKE, administered as the last daily dose and compared to standard amino acid protein substitutes, improved metabolic control by reducing harmful phenylalanine (Phe) ...

Scientists and clinicians have historically categorized PKU as a problem with the gene that encodes the enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine into ...

Medically reviewed by Allison Herries, RDN L-tyrosine is an amino acid that's often used in supplements to improve cognitive ...

PKU is a rare genetic disease that manifests at birth and is marked by an inability to break down phenylalanine (phe), an amino acid that is commonly found in many foods. Left untreated ...

The study demonstrated that PKU GOLIKE, administered as the last daily dose and compared to standard amino acid protein substitutes, improved metabolic control by reducing harmful phenylalanine ...

The study demonstrated that PKU GOLIKE, administered as the last daily dose and compared to standard amino acid protein substitutes, improved metabolic control by reducing harmful phenylalanine ...

Warner told Guthrie about phenylketonuria (PKU), now known to affect roughly 1 in 10,000 children. The disease makes it impossible to break down the amino acid phenylalanine, so that it builds up to ...