Phenylketonuria (PKU) Epidemiology Forecast 2025-2034

Phenylketonuria is a rare hereditary condition which results in the accumulation of the amino acid phenylalanine in the body. The disease is caused by a change in the phenylalanine hydroxylase (PAH) gene. Research studies suggest that PKU has an estimated prevalence of 1 in 23,930 live births and affects approximately 0.45 million individuals.

Phenylketonuria (PKU) Epidemiology Forecast Report Coverage

Expert Market Research's “Phenylketonuria (PKU) Epidemiology Forecast Report 2025-2034” offers comprehensive information on the prevalence and demographics of phenylketonuria (PKU). It projects the future incidence and prevalence rates of phenylketonuria (PKU) across various populations. The study covers age, gender, and type as major determinants of the phenylketonuria (PKU)-affected population. The report highlights patterns in the prevalence of phenylketonuria (PKU) over time and projects future trends based on multiple variables.

The report provides a comprehensive overview of the disease, as well as historical and projected data on the epidemiology of phenylketonuria (PKU) in the 8 major markets.

Regions Covered

• The United States
• Germany
• France
• Italy
• Spain
• The United Kingdom
• Japan
• India

Phenylketonuria (PKU) Disease Overview

Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by mutations in the PAH gene, leading to a deficiency in the enzyme called phenylalanine hydroxylase (PAH). Phenylalanine, an amino acid present in dietary proteins, must be broken down by this enzyme. Phenylalanine builds up in the blood and brain without being properly broken down, which can have harmful effects. Developmental delays, intellectual disability, seizures, behavioral issues, eczema, and a musty body odor from phenylalanine accumulation are some of the symptoms of PKU. It is inherited in an autosomal recessive pattern. Usually, a newborn blood test is used for screening, and then confirmatory tests like genetic and plasma amino acid analysis are performed.

Phenylketonuria (PKU): Treatment Overview

The treatment of phenylketonuria (PKU) involves lifelong low-phenylalanine diet to prevent the toxic buildup of this amino acid. While pegvaliase (Palynziq), an enzyme therapy, is available for adults to lower phenylalanine levels, pharmacological treatments such as sapropterin dihydrochloride (Kuvan), a synthetic form of tetrahydrobiopterin (BH4), can help some people metabolize phenylalanine more efficiently. The affected patients can achieve normal growth and development with early and consistent treatment, and ongoing gene therapy research gives the possibility of more advanced treatments.

Epidemiology

The phenylketonuria (PKU) epidemiology section offers information on the patient pool from history to the present as well as the projected trend for each of the 8 major markets. Expert Market Research provides both current and predicted trends for phenylketonuria (PKU) by examining a wide range of studies. Additionally, the report covers the diagnosed patient pool for phenylketonuria (PKU) and their trends. The data is broken down into specific categories, such as total prevalent cases in males and females, and total diagnosed cases across different age groups and patient pools.

• According to Human Genomes, the prevalence of PKU in countries like the United States, United Kingdom and Japan was 1:25,000, 1:10,000, and 1:125,000 respectively in 2022.
• According to an article published by the March of Dimes, about 1 in 10,000 to 15,000 babies are born with PKU each year in the United States.
• Research studies suggest that the prevalence of PKU varies in terms of geography. It is generally lowest in Asian countries, except for China, and highest in European and Middle Eastern countries. While in terms of ethnicity, the prevalence is generally highest in White or East Asian populations (1 in 10,000–15,000 live births).

Country-wise Phenylketonuria (PKU) Epidemiology

The phenylketonuria (PKU) epidemiology data and findings for the United States, EU-4 (Germany, Spain, Italy, France), the United Kingdom, Japan, and India are also provided in the epidemiology section.

The epidemiology of phenylketonuria (PKU) varies significantly across countries due to differences in genetic prevalence, newborn screening programs, and population genetics. According to National Health Institutes, the overall incidence of PKU in the United States is about 1/15,000. This incidence is greater for Native American and Caucasian populations and less for African American, Hispanic and Asian populations.

Country Specific Stats:

Country

Prevalence (Unit)

United States

United Kingdom

Germany

Italy

France

Spain

Japan

India
0.6
Scope of the Report

• The report covers a detailed analysis of signs and symptoms, causes, risk factors, pathophysiology, diagnosis, treatment options, and classification of phenylketonuria (PKU) based on several factors.
• Phenylketonuria (PKU) Epidemiology Forecast Report covers data for the eight major markets (the US, France, Germany, Italy, Spain, the UK, Japan, and India).
• The report helps to identify the patient population, and the unmet needs of phenylketonuria (PKU) are highlighted along with an assessment of the disease's risk and burden.

Key Questions Answered

• What are the key findings of phenylketonuria (PKU) epidemiology in the 8 major markets?
• What will be the total number of patients with phenylketonuria (PKU) across the 8 major markets during the forecast period?
• What was the country-wise prevalence of phenylketonuria (PKU) in the 8 major markets in the historical period?
• Which country will have the highest number of phenylketonuria (PKU) patients during the forecast period of 2025-2034?
• Which key factors would influence the shift in the patient population of phenylketonuria (PKU) during the forecast period of 2025-2034?
• What are the currently available treatments for phenylketonuria (PKU)?
• What are the disease risks, signs, symptoms, and unmet needs of phenylketonuria (PKU)?

Related Reports

Phenylketonuria Treatment Market
Show more