Abstract
Primary carnitine deficiency (PCD) causes low levels of carnitine in patients potentially leading to metabolic and cardiac symptoms. Newborn screening for PCD is now routine in many countries by measuring carnitine levels in infants. In this study we report Apgar scores, length and weight in newborns with PCD and newborns born to mothers with PCD compared to controls. Furthermore we report how effective different screening algorithms have been to detect newborns with PCD in the Faroe Islands.
Results: Newborns with PCD and newborns born to mothers with PCD did not differ with regard to Apgar scores, length and weight compared to controls. Newborns with PCD and newborns born to mothers with PCD had significantly lower levels of free carnitine (fC0) than controls. Screening algorithms focusing only on fC0 had a high rate of detection of newborns with PCD. Sample collection 4–9 days after birth seems to result in a higher detection rate than the current 2–3 days.
Conclusion: The clinical status at birth in infants with PCD and infants born to mothers with PCD does not differ compared to control infants. Screening algorithms for PCD should focus on fC0, and blood samples should be taken when the maternal influence on fC0 has diminished.
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Acknowledgements
The authors would like to thank the laboratory in the National Hospital in the Faroe Islands.
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Communicated by: John H Walter, MD FRCPCH
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Jan Rasmussen, David M. Hougaard, Noreen Sandhu, Katrine Fjællegaard, Poula R. Petersen, Ulrike Steuerwald and Allan M. Lund all declare that they have no conflict of interest.
Contribution of Individual Authors
Jan Rasmussen: First author and responsible for planning, conducting and reporting the work in the chapter.
David M. Hougaard: Second author and responsible for planning and critically reviewing the work in the chapter.
Noreen Sandhu: Third author and responsible for planning, conducting and critically reviewing the work in the chapter.
Katrine Fjællegaard: Fourth author and responsible for planning, conducting and critically reviewing the work in the chapter.
Poula R. Petersen: Fifth author and responsible for conducting and critically reviewing the work in the chapter.
Ulrike Steuerwald: Sixth author and responsible for planning and critically reviewing the work in the chapter.
Allan M. Lund: Last author and responsible for planning, conducting and critically reviewing the work in the chapter.
Take-Home Message
Primary carnitine deficiency does not affect the health status of newborns and free carnitine should be measured when performing newborn screening.
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Rasmussen, J. et al. (2017). Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 36. JIMD Reports, vol 36. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_30
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DOI: https://doi.org/10.1007/8904_2016_30
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