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Early Onset of Wilson Disease: Diagnostic Challenges
Anna Wiernicka1, Maciej Dądalski, Wojciech Jańczyk
1*Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland †Klinik für Transplantationsmedizin, University Hospital of Muenster, Muenster, Germany.
Insights
Early onset Wilson disease (WD) in children under 5 presents unique diagnostic challenges. Prompt diagnosis and treatment with zinc or D-penicillamine are effective, even with biochemical test limitations.
Area of Science:
- Pediatric Hepatology
- Genetic Metabolic Disorders
- Clinical Diagnosis
Background:
- Wilson disease (WD) is a rare genetic disorder of copper metabolism.
- Early diagnosis and treatment are crucial to prevent severe liver and neurological damage.
- Pediatric presentations of WD, especially in very young children, can be complex.
Purpose of the Study:
- To analyze the clinical features, diagnostic approaches, and treatment outcomes for early-onset Wilson disease (WD) in patients aged 5 years or younger.
- To highlight the diagnostic difficulties and effective management strategies for this specific pediatric population.
Main Methods:
- Retrospective analysis of 143 pediatric patients with WD treated between 1996 and 2015.
- Identification of patients with initial symptoms or abnormal liver function tests at age ≤5 years.
- Review of clinical data, biochemical tests (serum transaminases, ceruloplasmin), urinary copper excretion, liver copper content, and molecular genetic testing.
Main Results:
- Twenty-one patients (10 girls, 11 boys) were identified with early-onset WD (age ≤5 years).
- Biochemical tests showed elevated liver enzymes, low ceruloplasmin, and variable urinary copper excretion; liver copper quantification was significantly elevated in most.
- The p.H1069Q mutation was most common. Treatment with zinc salts or D-penicillamine was effective with no serious side effects.
Conclusions:
- Wilson disease can manifest as early as 2 years of age.
- Diagnostic strategies for young children may necessitate a combination of biochemical, molecular, and liver copper content analyses due to potentially less sensitive biochemical markers.
- Effective treatment options are available for early-onset WD.
Objectives:
The aim of the study was to analyze the clinical presentations, diagnosis, and treatment of patients ages ≤5 years with early onset Wilson disease (WD).
Methods:
Data from 143 pediatric patients with WD treated at our center between January 1996 and November 2015 were retrospectively analyzed.
Results:
A review of the 143 pediatric patients with WD identified 21 (10 girls, 11 boys) with first symptoms or abnormal liver function test results at age ≤5 years. The diagnosis of WD was confirmed in 8 patients younger than 5 years. At baseline the mean serum alanine aminotransferase level was 222 U/L and the mean serum aspartate aminotransferase level was 130 U/L. The mean serum ceruloplasmin concentration in 16 tested patients was <20 mg/dL. Of the 15 patients who underwent urinary copper excretion testing, 8 had levels between 40 and 100 μg/day, with only 4 having levels >100 μg/day. Liver copper quantification was >250 μg/g dry weight in 16 patients. The most common mutation was p.H1069Q, with compound heterozygosity in 5 patients and homozygosity in 9. Sixteen patients were treated with zinc salts and 5 with D-penicillamine. Both treatments were effective, with no serious side effects observed after 3 to 24 months.
Conclusions:
WD can present as early as 2 years of age. Because biochemical tests may be less sensitive in very young children, diagnoses may require a combination of tests. If molecular tests are inconclusive, liver copper content should be measured.
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