Maze Therapeutics Inc. has disclosed new sodium-dependent neutral amino acid transporter B(0)AT1 (SLC6A19) inhibitors reported to be useful for the treatment of phenylketonuria, metabolic syndrome, ...

Protein is a fan-favourite nutrient in the fitness community. But it's essential to not get swayed and consume the right ...

BioMarin (BMRN) announced positive new data from studies of Voxzogo in children with achondroplasia and in ongoing clinical trials ...

PTC Therapeutics (PTCT) shared new data being presented from the Phase 3 APHENITY trial and subsequent open-label extension study at the 2025 ...

PTC Therapeutics, Inc. (NASDAQ: PTCT) today shared new data being presented from the Phase 3 APHENITY trial and subsequent open-label extension study at the 2025 American College of Medical Genetics ...

A new study suggests early detection improves outcomes, but metabolic episodes in the first days of life still prove challenging.

Pluvia AS has synthesized pharmacological chaperones able to stabilize phenylalanine hydroxylase (PAH) reported to be useful for the treatment of hyperphenylalaninemia, particularly phenylketonuria ...

Medically reviewed by Aviv Joshua, MS, RDN Phenylalanine is an essential amino acid (building block of protein) that the body doesn't produce, meaning it must be obtained through food. It is found in ...

A nutritionist has warned people to avoid constantly using sweeteners over sugar as she claims the former is 'worse' and can cause glucose spikes ...

As Rare Disease Day is commemorated on 28 February, experts discuss the barriers to gene therapy access for some rare ...