PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that Sephience™ (sepiapterin) was granted marketing authorization by the European Commission for the treatment of children and ...

Palynziq substitutes the deficient phenylalanine hydroxylase (PAH) enzyme in PKU with a PEGylated version of the enzyme phenylalanine ammonia lyase to break down Phe. Palynziq is administered ...

Image Credit: Shutterstock AI / Shutterstock.com A recent Genetics in Medicine study reports evidence-based clinical guidelines for phenylalanine (Phe) hydroxylase (PAH) deficiency diagnosis and ...

There were several topics covered in a 2014 ACMG practice guideline titled “Phenylalanine Hydroxylase Deficiency ... with untreated phenylalanine (Phe) levels >360 µmol/L, (2) individuals ...

Summary: Scientists have identified BHB-Phe, a natural compound produced by the body, that regulates appetite and body weight. By activating specific brain neurons, BHB-Phe suppresses feeding behavior ...

In patients with PKU, phenylalanine hydroxylase (PAH ... Those who demonstrated a reduction in phenylalanine (Phe) levels of 15% or more from baseline were then randomly assigned to receive ...

苯丙酮尿症（phenylketonuria, PKU）又称苯丙氨酸羟化酶（phenylalanine hydroxylase, PAH） 缺乏症，是一种常染色体隐性遗传疾病，该 ...

Share on Pinterest Tanja Ivanova/Getty Images Phenylketonuria (PKU) is a condition where a genetic mutation causes low levels or an absence of an enzyme called phenylalanine hydroxylase (PAH).

Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system. The ...

Neuropathological and neuropsychological deficits of HPA. LAT1 functions as a transporter mediating uptake of large neutral amino acids (LNAAs), such as phenylalanine (Phe), tyrosine (Tyr), and ...