Phenylketonuria Market


Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life via routine newborn screening. PKU is characterized by the absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for processing the amino acid phenylalanine. Amino acids are the chemical building blocks of proteins and are essential for proper growth and development. With normal PAH activity, phenylalanine is converted to another amino acid, tyrosine. 


Phenylketonuria Epidemiology Segmentation in the 7MM

●    Total Diagnosed Prevalent Cases of PKU

●    Age-specific Diagnosed Prevalent Cases of PKU

●    Diagnosed Prevalent Cases of PKU by Mutation Type

●   Severity-specific Diagnosed Prevalent Cases of PKU  


Phenylketonuria Epidemiological Insights Observed in the 7MM


  • The total incident cases of Phenylketonuria observed in the 7MM were observed to be 49.6 Million in the year 2021
  • The highest diagnosed Phenylketonuria population accounting for 31K cases, was found in the EU5 in the year 2021
  • The United States accounted for 17.5K prevalent cases where as the lowest diagnosed cases were in Japan, accounting for 1K

Phenylketonuria Market Insight

The market size of Phenylketonuria in the 7MM was found to be approximately USD 630 Million in 2021.  

Phenylketonuria Market Strengths

Growing research activities to treat PKU plays a vital role. Moreover, governmental support for ongoing clinical research has allowed the US to dominate the PKU treatment landscape. 

Phenylketonuria Market Opportunities

The rising prevalence of PKU among the growing population, including newborns as well as an adult, has surged demand for its treatment worldwide.

Phenylketonuria Emerging Drugs

The emerging drugs in the Phenylketonuria market are

●   CNSA-001 (PTC923, Sepiapterin)

●   HMI-102

●   SYNB1618 

●   BMN 307, and many more


Phenylketonuria Key Players 

The key players working in the Phenylketonuria market are

  • PTC Therapeutics
  • Homology Medicines
  • Synlogic
  • BioMarin Pharmaceuticals and others