Publication:
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry (2002)
Author(s): Lochmuller H; Gempel K; Kiechl S; Hofmann S; Kiechl-Kohlendorfer U; Willeit J; Sperl W; Rettinger A; Bieger I; Pongratz D; Gerbitz KD; Bauer MF
- : Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry
Abstract: 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-deficient 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-chain acylcarnitines. The spectra in CPT II deficiency showed characteristic elevations of C16:0 and C18:1 acylcarnitines while acetylcarnitine C2 was not elevated. In the present study, the ratio (C16:0+C18:1)/C2 has detected all CPT II deficiencies and discriminated them from unspecific alterations of serum acylcarnitines. The ratios of CPT II-deficient 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-up of patients with recurrent myoglobinuria, recurrent muscular weakness and myalgia.
- Short Title: Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry
- Date: 02-11-2004
- Journal: Journal of Inherited Metabolic Disease
- Volume: 25
- Issue: 1
- Pages: 17-27
- Publisher: Springer Netherlands
- Publication type: Article
- Bibliographic status: Published
- Author Address: Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics and Munich Metabolic Disease Centre at the Academic Hospital Schwabing, Germany.
- URL: http://dx.doi.org/10.1023/A:1015109127986
- DOI: 10.1023/A:1015109127986
- ISSN (electronic): 1573-2665
Keywords: Adolescent Adult Aged Aged, 80 and over Carnitine/ analogs & derivatives/ blood Carnitine O-Palmitoyltransferase/ deficiency Child Child, Preschool Female Humans Infant Male Mass Screening Mass Spectrometry Middle Aged Palmitoylcarnitine/blood
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Professor Hanns Lochmuller
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