Related Experiment Video

Updated: Dec 30, 2025

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
06:52

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders

Published on: April 28, 2023

1.8K

Wilson disease in children and adolescents

Meranthi Fernando1, Indra van Mourik2, Evangeline Wassmer3

  • 1Liver Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, West Midlands, UK.

Archives of Disease in Childhood
|January 25, 2020
PubMed

Insights

Wilson disease (WD) is a rare genetic disorder affecting copper metabolism. Neurological symptoms in children are often underdiagnosed, necessitating early detection and multidisciplinary care.

Area of Science:

  • Genetics and Metabolism
  • Pediatric Neurology
  • Hepatology

Background:

  • Wilson disease (WD) is a rare, autosomal recessive disorder impacting copper metabolism, primarily affecting the liver and brain.
  • In pediatric populations, WD often presents with a predominant hepatic phenotype, leading to potential underdiagnosis of neurological manifestations.
  • Low awareness of neuropsychiatric signs in children contributes to the underdiagnosis of neurological Wilson disease.

Purpose of the Study:

  • To review recent advancements in understanding hepatic and neuropsychiatric symptoms of Wilson disease in childhood.
  • To highlight specific diagnostic tools and potential pitfalls in diagnosing pediatric WD.
  • To summarize current and future therapeutic strategies for Wilson disease in children.

Main Methods:

  • Literature review focusing on recent research in pediatric Wilson disease.
  • Analysis of diagnostic approaches, including clinical, biochemical, and genetic assessments.
  • Synthesis of information on current and emerging treatment options.

Main Results:

  • Neurological Wilson disease is frequently underdiagnosed in children due to a lack of awareness of associated neuropsychiatric symptoms.
  • Early identification of subtle neuropsychiatric symptoms is crucial for timely intervention.
  • A multidisciplinary approach involving various specialists is essential for comprehensive management.

Conclusions:

  • Practitioners must maintain a high index of suspicion for neurological WD in children, irrespective of liver involvement.
  • Prompt and accurate diagnosis through specialized tools is vital.
  • Integrated, multidisciplinary management is key to addressing the complexities of Wilson disease in pediatric patients.

Keywords:
hepatologyneurologypaediatric practice

More Related Videos

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides11:04

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides

Published on: September 7, 2019

9.7K
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.7K

Related Concept Videos

Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
165
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...
151
Pharmacokinetics in Pediatric Patients: Drug Distribution01:17

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,...
207
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

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...
189
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test01:22

Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess...
137
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...
649