Related Experiment Video

Updated: Feb 25, 2026

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

2.0K

How to use tests for disorders of copper metabolism

Jane Armer1, Christian De Goede2

  • 1Department of Clinical Laboratory Medicine, Royal Blackburn Hospital, Blackburn, UK.

Archives of Disease in Childhood. Education and Practice Edition
|July 29, 2017
PubMed

Insights

Wilson's disease (WD) is a treatable copper metabolism disorder caused by ATP7B gene mutations. Early diagnosis in children is crucial to prevent irreversible disability or death, despite diagnostic challenges.

Area of Science:

  • Pediatric Medicine
  • Genetics
  • Metabolic Disorders

Background:

  • Wilson's disease (WD) is a treatable inherited copper metabolism disorder due to ATP7B gene mutations.
  • Delayed diagnosis and treatment can lead to irreversible disability or death, particularly in children.
  • While liver disease is common, some children present with subtle neurological symptoms like dystonia or dysarthria.

Purpose of the Study:

  • To discuss copper metabolism disorders, focusing on Wilson's disease and Menke's disease.
  • To review current diagnostic tests for these rare pediatric conditions.
  • To provide guidance on investigating children suspected of having these disorders.

Main Methods:

  • Review of literature on Wilson's disease and Menke's disease.
  • Discussion of clinical presentations, including neurological and hepatic manifestations.
  • Analysis of the limitations and utility of various biochemical diagnostic tests.

Main Results:

  • Wilson's disease requires a high index of suspicion in children with neurological symptoms or school performance decline.
  • The differential diagnosis for these symptoms is broad, making WD exclusion challenging.
  • No single diagnostic test can definitively exclude Wilson's disease; biochemical tests have limitations.

Conclusions:

  • Early identification of treatable conditions like Wilson's disease is a key pediatric diagnostic aim.
  • Comprehensive investigation is necessary due to the wide differential diagnosis and limitations of individual tests.
  • This article aims to clarify diagnostic approaches for copper metabolism disorders in children.

Keywords:
caeruloplasmincoppermenke’s diseasemovement disorderwilson’s disease

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

9.9K
A Caenorhabditis elegans Nutritional-status Based Copper Aversion Assay06:45

A Caenorhabditis elegans Nutritional-status Based Copper Aversion Assay

Published on: July 26, 2017

7.1K

Related Concept Videos

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...
244
Serum Laboratory Studies, Stool Test, Breath Test01:30

Serum Laboratory Studies, Stool Test, Breath Test

Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...
966
Effect of Hepatic Disease on Pharmacokinetics: Drug Dosing and Hepatic Blood Flow01:26

Effect of Hepatic Disease on Pharmacokinetics: Drug Dosing and Hepatic Blood Flow

Chronic liver disease significantly impacts drug metabolism due to alterations in hepatic blood flow and enzyme accessibility. This disruption affects the body's pharmacokinetics—the movement and processing of drugs within the system. Key enzymes crucial for metabolizing medications become less accessible, changing how drugs are processed and utilized. Furthermore, liver disease influences the synthesis of plasma proteins, such as albumin and globulins, which play critical roles in drug...
298
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
2.8K
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
2.4K
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...
950