Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Overview of Protein Metabolism

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...

Chronic Kidney Disease III: Interprofessional Care

Chronic Kidney Disease III: Interprofessional Care

Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...

Pharmacokinetics in Pediatric Patients: Drug Metabolism

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...

Pharmacokinetics in Pediatric Patients: Drug Distribution

Pharmacokinetics in Pediatric Patients: Drug Distribution

Drug distribution in the pediatric population exhibits unique challenges and considerations due to the physiological differences between children, particularly neonates and infants, and adults. A crucial aspect of pediatric pharmacology is understanding how these differences impact the pharmacokinetics of various drugs, necessitating age-specific dosing strategies to ensure efficacy and safety.Neonates and infants have a higher total body water content, ~75%–90% of their body weight, compared...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Real-World Administration Practices of Sapropterin in Paediatric and Adults with Phenylketonuria: Results from a United Kingdom Cross-Sectional Survey.

Nutrients·2026

Same author

Blood Phenylalanine Control in Paediatric and Adult Centres in the UK: Data from 2012-2018.

Nutrients·2026

Same author

Health-Related Quality of Life in Pediatric Hepatic Glycogen Storage Disease: A Dual-Perspective Study.

Nutrients·2026

Same author

How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.

Nutrients·2026

Same author

Dietary conflicts with standard clinical procedures for colonoscopy in Phenylketonuria: a case report.

Journal of medical case reports·2026

Same author

Protein and Micronutrient Intake After Two Years of Sapropterin Treatment in PKU.

Nutrients·2026

Search research articles

Related Experiment Video

Updated: Jun 16, 2026

A Treatment Package without Escape Extinction to Address Food Selectivity

A Treatment Package without Escape Extinction to Address Food Selectivity

Published on: August 21, 2015

Changing dietary practices in phenylketonuria.

Anita MacDonald¹, Hülya Gökmen-Ozel, Anne Daly

¹Birmingham Children's Hospital, Birmingham, United Kingdom.

The Turkish Journal of Pediatrics

|February 2, 2010

Summary

Dietary management remains crucial for phenylketonuria (PKU) treatment, with ongoing innovations in protein substitutes and simplified approaches. Future research will explore diet

Area of Science:

Metabolic Disorders
Nutritional Science
Genetics

Background:

Phenylketonuria (PKU) is a genetic disorder requiring lifelong management.
While non-dietary treatments are emerging, diet remains the cornerstone of PKU management.
Continuous advancements in dietary interventions are improving patient outcomes.

Purpose of the Study:

To review the current and future landscape of dietary treatments for PKU.
To highlight the evolving role of diet in PKU management, alongside emerging therapies.
To emphasize the need for research on diet's impact on quality of life and long-term outcomes.

Main Methods:

Review of recent literature on PKU dietary management.
Analysis of innovations in protein substitutes and low-phenylalanine foods.

More Related Videos

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Related Experiment Videos

Last Updated: Jun 16, 2026

A Treatment Package without Escape Extinction to Address Food Selectivity

A Treatment Package without Escape Extinction to Address Food Selectivity

Published on: August 21, 2015

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Discussion of simplified dietary approaches and combination therapies.

Main Results:

Protein substitutes are improving in palatability and efficacy for long-term phenylalanine control.
Glycomacropeptide is being explored as an alternative protein source.
Simpler dietary management strategies are being adopted in some regions.
Dietary treatment remains essential for patients partially responsive to sapropterin dihydrochloride.

Conclusions:

Dietary interventions continue to evolve, offering improved outcomes for PKU patients.
Further research is needed on the long-term effects of combined diet and sapropterin dihydrochloride therapy.
Investigating the impact of diet on quality of life is crucial for comprehensive PKU care.