Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

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Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
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Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

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Jan Rasmussen1, David M Hougaard2, Noreen Sandhu2

  • 1Department of Internal Medicine, National Hospital, FO-100, Torshavn, Faroe Islands. lsjanra@ls.fo.

JIMD Reports
|January 21, 2017
PubMed

Insights

Newborn screening for primary carnitine deficiency (PCD) is effective using free carnitine (fC0) levels. Optimal detection rates for PCD are achieved when blood samples are collected later, after maternal influence on fC0 has decreased.

Area of Science:

  • Biochemistry
  • Genetics
  • Neonatology

Background:

  • Primary carnitine deficiency (PCD) is a metabolic disorder characterized by low carnitine levels, potentially causing severe health issues.
  • Newborn screening for PCD is crucial for early detection and intervention to prevent metabolic and cardiac complications.
  • Carnitine levels in newborns are influenced by both the infant and maternal factors, complicating screening.

Purpose of the Study:

  • To evaluate clinical parameters (Apgar scores, length, weight) in newborns with PCD and those born to mothers with PCD.
  • To assess the effectiveness of different screening algorithms for detecting PCD in newborns.
  • To determine optimal timing for blood sample collection to improve PCD screening accuracy.

Main Methods:

  • Retrospective analysis of Apgar scores, birth length, and weight in newborns with PCD and controls.
  • Measurement of free carnitine (fC0) levels in newborns screened for PCD.
  • Comparison of detection rates for various screening algorithms, including analysis of sample collection timing.

Main Results:

  • Newborns with PCD or born to mothers with PCD showed no significant differences in Apgar scores, length, or weight compared to controls.
  • Significantly lower free carnitine (fC0) levels were observed in newborns with PCD and those born to mothers with PCD.
  • Screening algorithms focused solely on fC0 demonstrated high detection rates for PCD.
  • Blood sample collection between 4-9 days postpartum yielded higher detection rates than the current 2-3 day standard.

Conclusions:

  • Infants with PCD or born to mothers with PCD do not present with distinct clinical symptoms at birth.
  • Screening algorithms for PCD should prioritize free carnitine (fC0) measurements.
  • Optimizing sample collection timing to minimize maternal carnitine influence is recommended for improved PCD screening efficacy.

Keywords:
ApgarFaroe IslandsNewborn screeningPrimary carnitine deficiency

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