{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T15:39:26Z","timestamp":1790869166626,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,2,1]],"date-time":"2002-02-01T00:00:00Z","timestamp":1012521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2002,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mitochondrial carnitine palmitoyltransferase II (CPT II) deficiency is the most common inherited disorder of lipid metabolism in adults. Currently the routine diagnosis is based on the determination of CPT enzyme activity in muscle tissue. We have analysed the tandem mass spectra of serum acylcarnitines of nine CPT II\u2010deficient patients. These spectra were compared to those of a cohort of 99 patients with other neuromuscular disorders and metabolic conditions supposed to cause alterations of the long\u2010chain acylcarnitines. The spectra in CPT II deficiency showed characteristic elevations of C<jats:sub>16:0<\/jats:sub> and C<jats:sub>18:1<\/jats:sub> acylcarnitines while acetylcarnitine C<jats:sub>2<\/jats:sub> was not elevated. In the present study, the ratio (C<jats:sub>16:0<\/jats:sub>+C<jats:sub>18:1<\/jats:sub>)\/C<jats:sub>2<\/jats:sub> has detected all CPT II deficiencies and discriminated them from unspecific alterations of serum acylcarnitines. The ratios of CPT II\u2010deficient patients showed virtually no overlap with those observed in patients with other neuromuscular disorders. We suggest mass spectrometry of serum acylcarnitines as a rapid screening test that should be included early in the diagnostic work\u2010up of patients with recurrent myoglobinuria, recurrent muscular weakness and myalgia.<\/jats:p>","DOI":"10.1023\/a:1015109127986","type":"journal-article","created":{"date-parts":[[2002,12,28]],"date-time":"2002-12-28T22:32:56Z","timestamp":1041114776000},"page":"17-27","source":"Crossref","is-referenced-by-count":62,"title":["Screening for Carnitine Palmitoyltransferase II Deficiency by Tandem Mass Spectrometry"],"prefix":"10.1002","volume":"25","author":[{"given":"K.","family":"Gempel","sequence":"first","affiliation":[{"name":"Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics and Munich Metabolic Disease Centre Academic Hospital Schwabing  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Kiechl","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Innsbruck  Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Hofmann","sequence":"additional","affiliation":[{"name":"Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics and Munich Metabolic Disease Centre Academic Hospital Schwabing  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur\u2010Institut University of Munich  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Kiechl\u2010Kohlendorfer","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Innsbruck  Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Willeit","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Innsbruck  Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Sperl","sequence":"additional","affiliation":[{"name":"Department of Paediatrics St. Johanns\u2010Spital  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Rettinger","sequence":"additional","affiliation":[{"name":"Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics and Munich Metabolic Disease Centre Academic Hospital Schwabing  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Bieger","sequence":"additional","affiliation":[{"name":"Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics and Munich Metabolic Disease Centre Academic Hospital Schwabing  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Pongratz","sequence":"additional","affiliation":[{"name":"Friedrich\u2010Baur\u2010Institut University of Munich  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. 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