Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

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...
Overview of Protein Metabolism01:21

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...
Diabetic Ketoacidosis l: Introduction01:25

Diabetic Ketoacidosis l: Introduction

DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic ketone production, and...
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...
Taste Buds and Receptors01:20

Taste Buds and Receptors

Gustation, or the sense of taste, is intrinsically linked to the anatomical structures located on the tongue. This organ's surface, along with the entirety of the oral cavity, is adorned with stratified squamous epithelium. Evident on the tongue are elevated structures known as papillae (singular = papilla), which house the mechanisms for the transduction of gustatory stimuli. Four distinct types of papillae exist, each identified by their unique morphological attributes: the circumvallate,...

You might also read

Related Articles

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

Sort by
Same author

Anti-GABA<sub>A</sub> receptor encephalitis 14 months after allogeneic haematopoietic stem-cell transplant for acute myeloid leukaemia.

Lancet (London, England)·2024
Same author

The Clinical Applications of Liquid Biopsies in Pediatric Brain Tumors: A Systematic Literature Review.

Cancers·2022
Same author

Large-scale migration into Britain during the Middle to Late Bronze Age.

Nature·2021
Same author

Pacific families navigating responsiveness and children's sleep in Aotearoa New Zealand.

Sleep medicine: X·2021
Same author

The need for overcorrection: evaluation of computer-assisted, virtually planned, fronto-orbital advancement using postoperative 3D photography.

Neurosurgical focus·2021
Same author

Maternal food consumption during late pregnancy and offspring risk of islet autoimmunity and type 1 diabetes.

Diabetologia·2021

Related Experiment Video

Updated: Jul 11, 2026

Simultaneous Quantification of Selected Kynurenines Analyzed by Liquid Chromatography-Mass Spectrometry in Medium Collected from Cancer Cell Cultures
10:38

Simultaneous Quantification of Selected Kynurenines Analyzed by Liquid Chromatography-Mass Spectrometry in Medium Collected from Cancer Cell Cultures

Published on: May 9, 2020

Phenylketonuria--the lived experience.

Nicole Frank1, Ruth Fitzgerald, Michael Legge

  • 1Barbara Davis Center for Childhood Diabetes, University of Colorado Health Sciences Center, Denver, Colorado, USA.

The New Zealand Medical Journal
|September 25, 2007
PubMed
Summary

Phenylketonuria (PKU) in adults presents chronic uncertainty and lifestyle challenges impacting treatment adherence. Understanding these lived experiences can improve patient care and support for the PKU community.

Area of Science:

  • Metabolic disorders
  • Qualitative research
  • Health psychology

Background:

  • Phenylketonuria (PKU) is a rare genetic disorder requiring lifelong dietary management.
  • Early diagnosis and treatment are crucial, but long-term adherence challenges persist into adulthood.
  • The lived experience of adult PKU in New Zealand remains under-explored.

Purpose of the Study:

  • To explore the lived experience of phenylketonuria (PKU) in adults in New Zealand.
  • To understand the relevance of these experiences for treatment adherence.
  • To identify factors influencing the long-term management of PKU.

Main Methods:

  • Qualitative in-depth interviews with eight adults with early-treated PKU.
  • Grounded theory analysis of transcribed interviews.

More Related Videos

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

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

A High-performance Liquid Chromatography Measurement of Kynurenine and Kynurenic Acid: Relating Biochemistry to Cognition and Sleep in Rats
07:04

A High-performance Liquid Chromatography Measurement of Kynurenine and Kynurenic Acid: Relating Biochemistry to Cognition and Sleep in Rats

Published on: August 19, 2018

Related Experiment Videos

Last Updated: Jul 11, 2026

Simultaneous Quantification of Selected Kynurenines Analyzed by Liquid Chromatography-Mass Spectrometry in Medium Collected from Cancer Cell Cultures
10:38

Simultaneous Quantification of Selected Kynurenines Analyzed by Liquid Chromatography-Mass Spectrometry in Medium Collected from Cancer Cell Cultures

Published on: May 9, 2020

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

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

A High-performance Liquid Chromatography Measurement of Kynurenine and Kynurenic Acid: Relating Biochemistry to Cognition and Sleep in Rats
07:04

A High-performance Liquid Chromatography Measurement of Kynurenine and Kynurenic Acid: Relating Biochemistry to Cognition and Sleep in Rats

Published on: August 19, 2018

  • Literature review of medical, scientific, and social science research.

    • Main Results:

    • Consistent themes of chronic uncertainty across multiple life domains.
    • Challenges in maintaining interpersonal relationships due to dietary restrictions.
    • Incompatibility between the PKU diet and common lifestyle demands.
    • Social science perspectives on risk, stigma, and dieting experiences.

    Conclusions:

    • Medical practitioners can enhance support for adult PKU patients.
    • Facilitating self-management and realistic expectations is key.
    • Increased and targeted information for the adult PKU population is recommended.