Related Experiment Video

Updated: May 31, 2026

Elevated Plus Maze Test Combined with Video Tracking Software to Investigate the Anxiolytic Effect of Exogenous Ketogenic Supplements
05:42

Elevated Plus Maze Test Combined with Video Tracking Software to Investigate the Anxiolytic Effect of Exogenous Ketogenic Supplements

Published on: January 7, 2019

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

Amber E Ten Hoedt1, Carla Em Hollak, Carolien Ca Boelen

  • 1Department of Pediatrics, Academic Medical Center (AMC), University of Amsterdam, AZ Amsterdam, The Netherlands. a.m.bosch@amc.uva.nl

Orphanet Journal of Rare Diseases
|June 29, 2011
PubMed

Insights

Phenylketonuria (PKU) patients can safely manage their condition with increased self-care. Providing online access to phenylalanine (Phe) levels empowers patients and parents, showing high satisfaction with this approach.

Area of Science:

  • Metabolic Disorders
  • Genetics
  • Pediatrics

Background:

  • Phenylketonuria (PKU) is an inherited metabolic disorder requiring strict dietary management to prevent cognitive impairment.
  • Elevated phenylalanine (Phe) levels result from impaired metabolism and necessitate lifelong adherence to a low-protein diet.
  • Current PKU management relies on regular monitoring of plasma Phe levels and dietary adjustments.

Purpose of the Study:

  • To evaluate the feasibility and safety of enhanced patient self-management in PKU.
  • To assess the impact of providing direct online access to blood phenylalanine (Phe) values without immediate professional guidance.

Main Methods:

  • A 10-month randomized controlled trial involving 38 PKU patients (age ≥ 1 year).
  • The study group received online access to Phe values via a "My PKU" web page, while the control group followed standard dietician communication.
  • Outcome measures included changes in mean Phe levels, percentage of values above the recommended range, and sampling frequency.

Main Results:

  • No significant differences were observed in mean Phe levels, percentage of elevated values, or blood sampling frequency between the study and control groups.
  • All participants reported high satisfaction with the online self-management system.

Conclusions:

  • Increased self-management through online Phe value access is feasible and safe for PKU patients and their parents.
  • This approach is highly appreciated by patients and families, suggesting a valuable tool for PKU care.
Abstract

Related Concept Videos

Inborn Errors of Metabolism01:20

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...
Chronic Kidney Disease III: Interprofessional Care01:28

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 Metabolism01:24

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...
Peritoneal Dialysis III: Nursing Management01:25

Peritoneal Dialysis III: Nursing Management

Peritoneal dialysis, or PD, utilizes the peritoneal membrane as a filter to eliminate excess fluid and waste products. Effective nursing management is essential for ensuring patient safety, preventing complications, and promoting optimal function of the peritoneal dialysis process.Assessment and MonitoringNurses must thoroughly assess the patient before, during, and after each dialysis session. Regular monitoring includes vital signs, daily weight, fluid intake and output, and laboratory values...
Chronic Kidney Disease IV: Nursing Management01:18

Chronic Kidney Disease IV: Nursing Management

Nursing management is essential for preventing complications, maintaining stability, and improving patients' quality of life in chronic kidney disease (CKD). By using a structured approach, nurses help slow CKD progression and support effective patient care​.1. Comprehensive patient assessmentEffective management begins with nurses reviewing the patient’s medical history, and identifying key risk factors like diabetes, hypertension, and nephrotoxic drug use. Nurses assess signs of fluid...
Bioavailability Study Design: Healthy Subjects Versus Patients01:15

Bioavailability Study Design: Healthy Subjects Versus Patients

Bioavailability studies are essential for evaluating a drug's therapeutic efficacy and understanding its absorption patterns under various physiological conditions. Conducting such studies on target patient populations provides more relevant data by simulating real-world disease states. However, practical challenges often necessitate the use of young, healthy adult volunteers as study subjects.Patients may exhibit altered drug absorption patterns due to the effects of the disease itself,...