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Phenylketonuria - Epidemiology Forecast - 2030

  • ID: 5292791
  • Report
  • February 2021
  • Region: Global
  • 100 pages
  • DelveInsight
This ‘Phenylketonuria - Epidemiology Forecast-2030' report delivers an in-depth understanding of the PKU, historical and forecasted epidemiology as well as the PKU trends in the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom) and Japan.

Phenylketonuria Disease Understanding

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 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.

PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene. Since each parent also has a normal gene, they do not show signs or symptoms of PKU.

Phenylketonuria Epidemiology Perspective

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by scenario in the 7MM covering the United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom) and Japan from 2018 to 2030.

Phenylketonuria Detailed Epidemiology Segmentation
  • In 2020, the total diagnosed prevalent cases of Phenylketonuria were found out to be 49,887 in the 7MM, these cases are expected to grow at a CAGR of 0.58%, for the study period 2018-2020.
  • The estimates suggest higher diagnosed prevalent cases of Phenylketonuria in the United States with 17,670 cases in 2020.
  • The highest number of cases were in the age group < 14 years that accounted for 69.41% of the PKU cases and the least cases were found in 45+ years which accounted for 4.03% of the total PKU cases in 2020, in the US.
  • The total number of cases Classic PKU (cPKU) was the 10,355 followed by Mild PKU (mPKU) with 4,806 and Mild hyperphenylalaninemia (MHP) with 2,509 cases in 2020, in the US.
  • Japan had 1,015 diagnosed prevalent cases of Phenylketonuria in 2020.
“With the increasing advancement and technologies, it has been observed that almost every newborn goes for the newborn screening process, adding up to 100% diagnosed rate; it can be concluded that almost all the cases of PKU are diagnosed in early age only. In very rare cases it is diagnosed in an older age group. Also, as per the KOLs views, most of the cases of PKU are diagnosed in the newborn screening process.”

Scope of the Report
  • The report covers the descriptive overview of Phenylketonuria, explaining its causes, symptoms, pathophysiology, and genetic basis.
  • The report provides insight into the 7MM historical and forecasted patient pool covering the United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom), and Japan.
  • The report assesses the disease risk and burden and highlights the unmet needs of Phenylketonuria.
  • The report helps to recognize the growth opportunities in the 7MM with respect to the patient population.
  • The report provides the segmentation of the disease epidemiology for 7MM by Diagnosed Prevalent cases of Phenylketonuria (PKU), Age-specific Diagnosed Prevalent Cases of Phenylketonuria (PKU), Severity-specific Diagnosed Prevalent Cases of Phenylketonuria (PKU) and Diagnosed Prevalent Cases of Phenylketonuria (PKU) by Mutation type.
Report Highlights
  • 10-Year Forecast of Phenylketonuria
  • 7MM Coverage
  • Diagnosed Prevalent cases of Phenylketonuria (PKU)
  • Age-specific Diagnosed Prevalent Cases of Phenylketonuria (PKU)
  • Severity-specific Diagnosed Prevalent Cases of Phenylketonuria (PKU)
  • Diagnosed Prevalent Cases of Phenylketonuria (PKU) by Mutation type
Key Questions Answered
  • What are the disease risk, and burden of Phenylketonuria?
  • What is the historical Phenylketonuria patient pool in the United States, EU5 (Germany, France, Italy, Spain, and the UK), and Japan?
  • What would be the forecasted patient pool of Phenylketonuria at the 7MM level?
  • What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Phenylketonuria?
  • Out of the above-mentioned countries, which country would have the highest prevalent population of Phenylketonuria during the forecast period (2021-2030)?
  • At what CAGR the population is expected to grow across the 7MM during the forecast period (2021-2030)?
Reasons to Buy

The Phenylketonuria report will allow the user to -
  • Develop business strategies by understanding the trends shaping and driving the 7MM Phenylketonuria epidemiology forecast.
  • The Phenylketonuria epidemiology report and model were written and developed by Masters and Ph.D. level epidemiologists.
  • The Phenylketonuria epidemiology model developed by the publisher is easy to navigate, interactive with dashboards, and epidemiology based on transparent and consistent methodologies. Moreover, the model supports data presented in the report and showcases disease trends over the 10-year forecast period using reputable sources.
Key Assessments
  • Patient Segmentation
  • Disease Risk and Burden
  • Risk of disease by the segmentation
  • Factors driving growth in a specific patient population
Geographies Covered
  • The United States
  • EU5 (Germany, France, Italy, Spain, and the United Kingdom)
  • Japan
Study Period: 2018-2030
Note: Product cover images may vary from those shown
1 Key Insights

2 Report Introduction

3 Phenylketonuria (PKU) Epidemiology Overview at a Glance
3.1 Patient Distribution (%) of Phenylketonuria (PKU) in 2018
3.2 Patient Distribution (%) of Phenylketonuria (PKU) in 2030

4 Executive Summary of Phenylketonuria (PKU)

5 Disease Background and Overview
5.1 Introduction
5.2 Inheritance of PKU
5.3 Classification of PKU
5.4 Pathophysiology of PKU
5.5 Symptoms of PKU
5.6 Prognosis of PKU
5.7 Diagnosis of PKU
5.7.1 Bacterial Inhibition Test
5.7.2 Tandem Mass Spectrometry
5.7.3 Molecular Analysis of PKU-Associated PAH Mutations
5.7.4 Genotype–phenotype correlation
5.8 Differential Diagnosis
5.9 Diagnosis Guidelines
5.9.1 ACMG Practice Guidelines
5.1 Key European guidelines for the diagnosis and management of patients with PKU

6 Epidemiology and Patient Population
6.1 Key Findings
6.2 Methodology
6.3 Diagnosed Prevalent Cases of Phenylketonuria (PKU) in the 7MM
6.4 Age-specific Diagnosed Prevalent Cases of Phenylketonuria (PKU) in the 7MM
6.5 Severity-specific Diagnosed Prevalent Cases of Phenylketonuria (PKU) in the 7MM
6.6 Diagnosed Prevalent Cases of Phenylketonuria (PKU) by Mutation type in the 7MM
6.7 The United States
6.5.1. Assumptions and Rationale
6.5.2. Diagnosed Prevalent Cases of Phenylketonuria in the United States
6.5.3. Age-specific Diagnosed Prevalent Cases of Phenylketonuria in the United States
6.5.4. Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in the United States
6.5.5. Diagnosed Prevalence of Phenylketonuria by mutation type in the United States
6.8 EU5
6.8.1 Germany
6.8.1.1 Assumptions and Rationale
6.8.1.2 Diagnosed Prevalent Cases of Phenylketonuria in Germany
6.8.1.3 Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Germany
6.8.1.4 Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Germany
6.8.1.5 Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Germany
6.8.2 France
6.8.2.1 Assumptions and Rationale
6.8.2.2 Diagnosed Prevalent Cases of Phenylketonuria in France
6.8.2.3 Age-Specific Diagnosed Prevalent Cases of Phenylketonuria in France
6.8.2.4 Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in France
6.8.2.5 Diagnosed Prevalent Cases of Phenylketonuria by mutation type in France
6.8.3 Italy
6.8.3.1 Assumptions and Rationale
6.8.3.2 Diagnosed Prevalent Cases of Phenylketonuria in Italy
6.8.3.3 Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Italy
6.8.3.4 Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Italy
6.8.3.5 Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Italy
6.8.4 Spain
6.8.4.1 Assumptions and Rationale
6.8.4.2 Diagnosed Prevalent Cases of Phenylketonuria in Spain
6.8.4.3 Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Spain
6.8.4.4 Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Spain
6.8.4.5 Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Spain
6.8.5 United Kingdom
6.8.5.1 Assumptions and Rationale
6.8.5.2 Diagnosed Prevalent Cases of Phenylketonuria in the UK
6.8.5.3 Age-specific Diagnosed Prevalent Cases of Phenylketonuria in the UK
6.8.5.4 Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in the UK
6.8.5.5 Diagnosed Prevalent Cases of Phenylketonuria by mutation type in the UK
6.9 Japan
6.9.1.1 Assumptions and Rationale
6.9.1.2 Diagnosed Prevalent Cases of Phenylketonuria in Japan
6.9.1.3 Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Japan
6.9.1.4 Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Japan
6.9.1.5 Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Japan

7 Patient Journey

8 KOL Views

9 Appendix
9.1 Report Methodology
9.2 Bibliography

10 Publisher Capabilities

11 Disclaimer

12 About the Publisher

List of Tables
Table 1: Summary of Phenylketonuria (PKU) Epidemiology (2018-2030)
Table 2: Diagnosed Prevalent Cases of Phenylketonuria (PKU) in the 7MM (2018-2030)
Table 3: Age-specific Diagnosed Prevalent Cases of PKU in the 7MM (2018-2030)
Table 4: Severity-specific Diagnosed Prevalent Cases of PKU in the 7MM (2018-2030)
Table 5: Diagnosed Prevalent Cases of PKU by Mutation type in the 7MM (2018-2030)
Table 6: Diagnosed Prevalent cases of Phenylketonuria in the United States (2018-2030)
Table 7: Age-specific Diagnosed Prevalent Cases of PKU in the United States (2018-2030)
Table 8: Severity-specific Cases of Phenylketonuria in the United States (2018-2030)
Table 9: Diagnosed Prevalent Cases of PKU by mutation type in the United States (2018-2030)
Table 10: Diagnosed prevalent Cases of Phenylketonuria in Germany (2018-2030)
Table 11: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Germany (2018-2030)
Table 12: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Germany (2018-2030)
Table 13: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Germany (2018-2030)
Table 14: Diagnosed Prevalent Cases of Phenylketonuria in France (2018-2030)
Table 15: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in France (2018-2030)
Table 16: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in France (2018-2030)
Table 17: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in France (2018-2030)
Table 18: Diagnosed Prevalent Cases of Phenylketonuria in Italy (2018-2030)
Table 19: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Italy (2018-2030)
Table 20: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Italy (2018-2030)
Table 21: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Italy (2018-2030)
Table 22: Diagnosed Prevalent Cases of Phenylketonuria in Spain (2018-2030)
Table 23: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Spain (2018-2030)
Table 24: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Spain (2018-2030)
Table 25: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Spain (2018-2030)
Table 26: Diagnosed prevalent Cases of Phenylketonuria in the UK (2018-2030)
Table 27: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in the UK (2018-2030)
Table 28: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in the UK (2018-2030)
Table 29: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in the UK (2018-2030)
Table 30: Diagnosed Prevalent Cases of Phenylketonuria in Japan (2018-2030)
Table 31: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Japan (2018-2030)
Table 32: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Japan (2018-2030)
Table 33: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Japan (2018-2030)

List of Figures
Figure 1: Phenylketonuria
Figure 2: Inheritance Pattern
Figure 3: Pathophysiology of PKU according to European Guidelines
Figure 4: Symptoms of PKU
Figure 5: Newborn screening algorithm for PKU
Figure 6: Diagnostic flow-chart for PKU
Figure 7: Diagnosed Prevalent Cases of Phenylketonuria (PKU) in the 7MM (2018-2030)
Figure 8: Age-specific Diagnosed Prevalent Cases of PKU in the 7MM (2018-2030)
Figure 9: Severity-specific Diagnosed Prevalent Cases of PKU in the 7MM (2018-2030)
Figure 10: Diagnosed Prevalent Cases of PKU by Mutation type in the 7MM (2018-2030)
Figure 11: Diagnosed Prevalent cases of Phenylketonuria in the United States (2018-2030)
Figure 12: Age-specific Diagnosed Prevalent Cases of PKU in the United States (2018-2030)
Figure 13: Severity-specific Cases of Phenylketonuria in the United States (2018-2030)
Figure 14: Diagnosed Prevalent Cases of PKU by mutation type in the United States (2018-2030)
Figure 15: Diagnosed prevalent Cases of Phenylketonuria in Germany (2018-2030)
Figure 16: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Germany (2018-2030)
Figure 17: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Germany (2018-2030)
Figure 18: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Germany (2018-2030)
Figure 19: Diagnosed Prevalent Cases of Phenylketonuria in France (2018-2030)
Figure 20: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in France (2018-2030)
Figure 21: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in France (2018-2030)
Figure 22: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in France (2018-2030)
Figure 23: Diagnosed Prevalent Cases of Phenylketonuria in Italy (2018-2030)
Figure 24: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Italy (2018-2030)
Figure 25: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Italy (2018-2030)
Figure 26: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Italy (2018-2030)
Figure 27: Diagnosed Prevalent Cases of Phenylketonuria in Spain (2018-2030)
Figure 28: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Spain (2018-2030)
Figure 29: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Spain (2018-2030)
Figure 30: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Spain (2018-2030)
Figure 31: Diagnosed prevalent Cases of Phenylketonuria in the UK (2018-2030)
Figure 32: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in the UK (2018-2030)
Figure 33: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in the UK (2018-2030)
Figure 34: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in the UK (2018-2030)
Figure 35: Diagnosed Prevalent Cases of Phenylketonuria in Japan (2018-2030)
Figure 36: Age-specific Diagnosed Prevalent Cases of Phenylketonuria in Japan (2018-2030)
Figure 37: Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in Japan (2018-2030)
Figure 38: Diagnosed Prevalent Cases of Phenylketonuria by mutation type in Japan (2018-2030)
Note: Product cover images may vary from those shown
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