September 30, 2025Journal of Pediatric Endocrinology and Metabolism

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency

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Authors

SGSarah C. GrünertUniversity of Freiburg UBUrs BergerHelmholtz Centre for Environmental Research FHFriederike HörsterHeidelberg University

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Implication

Biochemical analysis reveals that dried blood spots are superior in diagnosing CPT1A deficiency, suggesting potential misdiagnosis in alternative samples.

Key Points

CPT1A deficiency can yield false negative results in serum/plasma analysis, highlighting diagnostic pitfalls.
Analysis of five patients showed normal acylcarnitine profiles, despite CPT1A deficiency, complicating diagnosis.
Dried blood spots demonstrate better reliability in quantifying metabolic ratios than serum or plasma samples.
Normal concentrations of free carnitine were observed during follow-up despite initial positive newborn screenings.

Cite This Study

Grünert et al. (2025) studied this question.

synapsesocial.com/papers/68dc26218a7d58c25ebb2f83 https://doi.org/10.1515/jpem-2025-0382

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Implication

Biochemical analysis reveals that dried blood spots are superior in diagnosing CPT1A deficiency, suggesting potential misdiagnosis in alternative samples.

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency

Discussion

Member takes

Implication

Key Points

Cite This Study

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency

Discussion

Member takes

Implication

Key Points

Cite This Study

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