{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T20:25:41Z","timestamp":1769631941108,"version":"3.49.0"},"reference-count":23,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Arch Dis Child Educ Pract Ed"],"accepted":{"date-parts":[[2017,5,7]]},"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:p>In paediatrics, one of our main aims in the diagnostic process is to identify any treatable conditions. The copper metabolism disorder Wilson\u2019s disease (WD) is one such condition that is caused by mutations in the <jats:italic>ATP7B<\/jats:italic> gene. Delay in treatment could result in irreversible disability or even death. Although liver disease is the most common presenting feature in children, some children may initially present with a subtle neurological presentation only. In patients presenting with dystonia, tremor, dysarthria or with a deterioration in school performance, there should be a high index of suspicion for WD. However, the differential of these clinical presentations is wide and exclusion of WD is difficult. No single diagnostic test can exclude WD and each of the biochemical tests has limitations. In this article, we discuss copper metabolism disorders including WD and Menke\u2019s disease. We then discuss the available diagnostic tests and how to investigate children for these rare disorders.<\/jats:p>","DOI":"10.1136\/archdischild-2016-310960","type":"journal-article","created":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T20:50:20Z","timestamp":1501188620000},"page":"319-327","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["How to use tests for disorders of copper metabolism"],"prefix":"10.1136","volume":"102","author":[{"given":"Jane","family":"Armer","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory Medicine, Royal Blackburn Hospital, Blackburn, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7772-5972","authenticated-orcid":false,"given":"Christian","family":"De Goede","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2017,7,27]]},"reference":[{"key":"2025090221340780000_102.6.319.1","doi-asserted-by":"publisher","DOI":"10.1053\/jhep.2003.50281"},{"key":"2025090221340780000_102.6.319.2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2010.180"},{"key":"2025090221340780000_102.6.319.3","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt035"},{"key":"2025090221340780000_102.6.319.4","first-page":"743","article-title":"Neurological Wilson disease in children: a three years experience from Multan","volume":"61","author":"Noureen","year":"2011","journal-title":"J Pak Med Assoc"},{"key":"2025090221340780000_102.6.319.5","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/j.psym.2015.07.008","article-title":"Delay in diagnosis of Wilson Disease in Children with Insidious Psychiatric Symptoms: a Case Report and Review of the Literature","volume":"56","author":"Millard","year":"2015","journal-title":"Psychosomatics"},{"key":"2025090221340780000_102.6.319.6","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2005.087262"},{"key":"2025090221340780000_102.6.319.7","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.187"},{"key":"2025090221340780000_102.6.319.8","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70190-5"},{"key":"2025090221340780000_102.6.319.9","unstructured":"Kricka LJ , Park JY , Techniques O . 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