Phenylketonuria (PKU) - Epidemiology Forecast - 2032

Phenylketonuria (PKU) - Epidemiology Forecast - 2032

Key Highlights

Phenylketonuria (PKU) is an inborn metabolic defect that can be detected in early life through routine newborn screening. Phenylketonuria (PKU) is defined by the absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), which is responsible for the amino acid phenylalanine processing.

Newborn blood testing identifies almost all cases of phenylketonuria. All 50 states in the United States require newborns to be screened for Phenylketonuria (PKU), and many other countries also routinely screen infants for PKU. If a person has PKU or a family history, the doctor may recommend screening tests before pregnancy or birth. It is possible to identify Phenylketonuria (PKU) carriers through a blood test.

According to DelveInsight estimates, in 2022, the highest number of diagnosed prevalent cases of Phenylketonuria (PKU) was observed in the United States among the 7MM.

Most Phenylketonuria (PKU) cases are diagnosed in infants due to the high rate of newborn screening. Phenylketonuria (PKU) symptoms can range from mild to severe. The most severe form of this disorder is known as classic PKU. An infant with classic PKU may appear normal for the first few months.

In 2022, Japan accounted for the lowest diagnosed prevalent population of Phenylketonuria (PKU) out of all the 7MM countries.

DelveInsight’s “Phenylketonuria (PKU) – Epidemiology Forecast – 2032” report delivers an in-depth understanding of the Phenylketonuria (PKU), historical and forecasted epidemiology in the United States, EU4 (Germany, Spain, Italy, and France) and the United Kingdom, and Japan.

Geography Covered

The United States

EU4 (Germany, France, Italy, and Spain) and the United Kingdom

Japan

Study Period: 2019–2032

Phenylketonuria (PKU) Understanding and Diagnostic Algorithm

Phenylketonuria (PKU) Overview

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. However, when PAH is absent or deficient, phenylalanine accumulates and is toxic to the brain. Without treatment, most people with PKU would develop a severe intellectual disability. To prevent intellectual disability, treatment consists of a carefully controlled, phenylalanine-restricted diet beginning during the first days or weeks of life.

Phenylketonuria (PKU) Diagnosis

Phenylketonuria (PKU) diagnosis is achieved by neonatal screening in most developed countries soon after birth. In the countries where expanded newborn screening has been adopted, PKU is diagnosed by Phe and Tyr’s evaluation in neonatal dried blood spot (DBS) using tandem mass spectrometry. Virtually 100% of PKU subjects should be identified. The risk of false-negative has become more pressing with early postnatal discharge from the hospital for mothers and term infants. In such cases, Phe/Tyr ratio evaluation increases the test’s sensitivity and positive predictive value, avoiding the false-negative and lowering the false-positive risk. Although still utilized, other methods used for PKU neonatal screening do not allow the simultaneous evaluation of Tyr in neonatal DBS. Bacterial inhibition assay (Guthrie test) is a simple, inexpensive, and reliable test used for many decades; however, it is a manual, semi-quantitative test and is being replaced by other methods in all screening laboratories. Some laboratories use a fluorimetric test that is quantitative, automated, and reliable.

Further details related to diagnosis are provided in the report…

Phenylketonuria (PKU) Epidemiology

The epidemiology forecast model of Phenylketonuria (PKU) for the 7MM is based on the use of point prevalence of PKU in the overall population to calculate the cases of PKU in 2019. For the subsequent years, the incidence of Phenylketonuria (PKU) in newborn babies has been used to calculate the newly diagnosed cases of Phenylketonuria (PKU) by neonatal screening each year, which was then added to the cases of the former year to calculate the total cases of that year.

The Phenylketonuria (PKU) epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by total diagnosed prevalent cases of Phenylketonuria (PKU), mutation type-specific cases of Phenylketonuria (PKU), age-specific cases of Phenylketonuria (PKU), and severity-specific cases of Phenylketonuria (PKU) in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2019 to 2032.

The total diagnosed prevalent cases of Phenylketonuria (PKU) in the 7MM made up approximately 50,500 cases in 2022 and are projected to increase during the forecast period.

The United States contributed to the largest diagnosed prevalent population of Phenylketonuria (PKU), acquiring ~36% of the 7MM in 2022.

Among EU4 and the UK, Germany accounted for the highest number of Phenylketonuria (PKU) cases, followed by France, whereas Spain had the lowest number of cases in 2022.

The mutation-specific cases of PKU were further divided into missense mutations, nonsense mutations, mutations at splice sites, deletions, and others. It was found that missense mutations formed the highest number of cases of PKU, whereas the others category formed the least number of cases of PKU, throughout the 7MM, in 2022.

It was found that missense mutations formed the highest number of cases of PKU, i.e., ~11,300 cases, whereas the others category formed the least number of cases of PKU, i.e., ~850 cases in the US, in 2022.

Scope of the Report

The report covers a segment of key events, an executive summary, and a descriptive overview of Phenylketonuria (PKU), explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.

Comprehensive insight into the country-wise epidemiology segments and forecasts, the future growth potential of diagnosis rate, and insights on disease progression have been provided.

Patient stratification based on mutation type-specific, severity-specific cases, and age-specific cases is an inclusion.

A detailed review of current challenges in establishing the diagnosis.

Phenylketonuria (PKU) Report Insights

Phenylketonuria (PKU) Patient Population

Severity-wise and Age-wise Patient Population

Country-wise Epidemiology Distribution

Phenylketonuria (PKU) Report Key Strengths

10 years Forecast

The 7MM Coverage

Phenylketonuria (PKU) Epidemiology Segmentation

Phenylketonuria (PKU) Report Assessment

Epidemiology Segmentation

Current Diagnostic Practices

Key Questions

Epidemiology Insights

What are the disease risks and burdens of Phenylketonuria (PKU)? What will be the growth opportunities across the 7MM with respect to the patient population of Phenylketonuria (PKU)?

What is the historical and forecasted Phenylketonuria (PKU) patient pool in the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan?

Which type of Phenylketonuria (PKU), as per severity, is the largest contributor to the Phenylketonuria (PKU) patient pool?

Which age group contributes more to Phenylketonuria (PKU) in the 7MM?

What factors affect the increase in the diagnosis rate of Phenylketonuria (PKU)?

Reasons to Buy

Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.

To understand the grade-specific Phenylketonuria (PKU) diagnosed prevalent cases in varying geographies over the coming years.

A detailed overview of age-specific, severity-specific, and mutation-type specific cases of Phenylketonuria (PKU) is included.

To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis and insights on the recurrent and treatment-eligible patient pool.

Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.