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

• Published in: JIMD Reports, Volume 36 Vol. 36; pp. 35 - 40
• Main Authors: Rasmussen, Jan, Hougaard, David M., Sandhu, Noreen, Fjællegaard, Katrine, Petersen, Poula R., Steuerwald, Ulrike, Lund, Allan M.
• Format: Book Chapter Journal Article
• Language: English
• Published: Germany Springer Berlin / Heidelberg 01.01.2017; Springer Berlin Heidelberg
• Series: JIMD Reports
• Subjects: Apgar; Faroe Islands; Medical genetics; Metabolism; Newborn screening; Paediatric medicine; Primary carnitine deficiency; Newborn screening; Apgar; Primary carnitine deficiency; Faroe Islands
• ISBN: 9783662561379; 3662561379
• ISSN: 2192-8304; 2192-8312
• DOI: 10.1007/8904_2016_30

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.