Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency
Our data show, that dried blood is the preferred sample material for the diagnosis of CPT1A deficiency as it is superior to serum/plasma with respect to diagnostic sensitivity and reliability in quantification of the ratio [C0/(C16 + C18)]. CPT1A deficiency can be missed, if the analysis is only performed in serum or plasma, and confirmatory diagnostics in serum or plasma after screening can be false negative.
Authors
- Dorothea Haas (ORCID: https://orcid.org/0000-0002-4413-7012)
- Ute Spiekerkoetter (ORCID: https://orcid.org/0000-0002-5385-6705)
- Sarah C. Grünert (ORCID: https://orcid.org/0000-0001-5986-0468)
- Urs Berger (ORCID: https://orcid.org/0000-0002-0364-6443)
- Eva Thimm
- Anke Schumann (ORCID: https://orcid.org/0000-0002-7958-0188)
- Kathrin V. Schwarz
- Friederike Hörster (ORCID: https://orcid.org/0000-0002-3859-4161)
Institutions
- Heidelberg University (DE)
- University Medical Center Freiburg (DE)
- University Hospital Heidelberg (DE)
- Heinrich Heine University Düsseldorf (DE)
- Heidelberg University (US)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-09-29
- DOI
- https://doi.org/10.1515/jpem-2025-0382
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00