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Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 organic acidaemias, 2 fatty acid oxidation defects, 6 amino acid disorders, and 1 peroxisomal abnormality. On the basis of the ratio of different acylcarnitine species relative to free carnitine, isovaleric acidaemia, methylmalonic acidaemia, and long\u2010chain hydroxyacylCoA dehydrogenase deficiency could be discriminated from the other disorders. For amino acids, neither creatinine nor alternative amino acid proved suitable reference standards against which results could be expressed. However, argininosuccinate and alloisoleucine were present in significantly elevated concentrations in two patients with argininosuccinate lyase deficiency and two patients with branched\u2010chain ketoacid dehydrogenase deficiency. This study has raised the potential of earwax for investigation of IEMs and may also have role in postmortem investigations. In view of its limited invasiveness, earwax also may have a role as a material to monitor treatment responses and compliance in patients with IEMs.<\/jats:p>","DOI":"10.1002\/jmd2.12102","type":"journal-article","created":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T13:38:18Z","timestamp":1581687498000},"page":"72-78","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Earwax: A potentially useful medium to identify inborn errors of metabolism?"],"prefix":"10.1002","volume":"52","author":[{"given":"Stefan","family":"Krywawych","sequence":"first","affiliation":[{"name":"Department of Chemical Pathology NIHR BRC Great Ormond Street Hospital Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maureen","family":"Cleary","sequence":"additional","affiliation":[{"name":"Paediatric Laboratory Medicine and Metabolic Medicine Great Ormond Street Hospital Foundation Trust  London 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