July 14, 2024

Phenylketonuria Treatment Market Driven by Growing Awareness Programs for Rare Diseases

Phenylketonuria (PKU) is an inherited metabolic disorder where the body is unable to break down an amino acid called phenylalanine. This leads to a buildup of phenylalanine in the body which can cause intellectual disability and other serious health problems if left untreated. Treatment involves following a low-protein diet that avoids phenylalanine and taking medication to manage phenylalanine levels. With growing disease awareness initiatives by patient advocacy groups and governments, more people are getting screened and opting for treatment options. Advances in gene and stem cell therapies have also increased treatment alternatives.

The global Phenylketonuria Treatment Market is estimated to be valued at US$ 1 Bn in 2023 and is expected to exhibit a CAGR of 8.6% over the forecast period 2023 to 2030, as highlighted in a new report published by Coherent Market Insights.

Market key trends:
Gene therapy is one of the key emerging treatment options. It works by delivering a healthy copy of the defective PAH gene to produce the PAH enzyme and break down phenylalanine. Companies like BioMarin Pharmaceuticals, Dimension Therapeutics and Homology Medicines are developing various gene therapies for PKU with promising results in clinical trials. Along with offering potential cure, gene therapies can significantly improve patient compliance over the existing diet management approach. Growing R&D investment and positive clinical data makes gene therapy a major trend in the phenylketonuria treatment market.
Porter’s Analysis
Threat of new entrants: The threat of new entrants in the phenylketonuria treatment market is moderate as extensive R&D and clinical trials are required to develop new therapeutics. Bargaining power of buyers: The bargaining power of buyers is moderate due to the availability of substitutes. Bargaining power of suppliers: The bargaining power of suppliers is high due to fewer alternatives and substitutes available in the market. Threat of new substitutes: The threat of new substitutes is moderate as researchers are exploring new options for treating PKU. Competitive rivalry: The competitive rivalry is high due to presence of few large players.

Key Takeaways
The global phenylketonuria treatment market is expected to witness high growth during the forecast period 2023-2030.

Regional analysis: North America region currently dominates the phenylketonuria treatment market due to increasing awareness about PKU, robust healthcare infrastructure, rising spending on specialty therapeutics. Europe is also expected to witness significant growth owing to new product launches and strong presence of major pharma companies.

Key players: Key players operating in the phenylketonuria treatment market are BioMarin Pharmaceuticals Inc., Censa Pharmaceutical, Synlogic Inc., Erytech Pharma SA, Codexis Inc., SOM Innovation Biotech SL, Homology Medicines Inc., and Ultragenyx (Dimension Therapeutics). BioMarin Pharmaceuticals Inc. dominates the global market with its approved drug Palynziq (pegvaliase-pqpz) for PKU treatment.


  1. Source: Coherent Market Insights, Public sources, Desk research
  2. We have leveraged AI tools to mine information and compile it