Jan Rasmussen1, David M Hougaard2, Noreen Sandhu2, Katrine Fjællegaard3, Poula R Petersen3, Ulrike Steuerwald4,5, Allan M Lund6. 1. Department of Internal Medicine, National Hospital, FO-100, Torshavn, Faroe Islands. lsjanra@ls.fo. 2. Section of Neonatal Screening and Hormones, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark. 3. Department of Internal Medicine, National Hospital, FO-100, Torshavn, Faroe Islands. 4. Department of Occupational and Public Health, National Hospital System, Torshavn, Faroe Islands. 5. Screening-Laboratories Hannover, Hannover, Germany. 6. Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
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.
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.
Authors: Jan Rasmussen; Olav W Nielsen; Nils Janzen; Morten Duno; Hannes Gislason; Lars Køber; Ulrike Steuerwald; Allan M Lund Journal: J Inherit Metab Dis Date: 2013-05-08 Impact factor: 4.982
Authors: Marta Frigeni; Bijina Balakrishnan; Xue Yin; Fernanda R O Calderon; Rong Mao; Marzia Pasquali; Nicola Longo Journal: Hum Mutat Date: 2017-09-14 Impact factor: 4.878
Authors: Katharina A Schiergens; Katharina J Weiss; Wulf Röschinger; Amelie S Lotz-Havla; Joachim Schmitt; Robert Dalla Pozza; Sarah Ulrich; Birgit Odenwald; Joachim Kreuder; Esther M Maier Journal: Mol Genet Metab Rep Date: 2021-06-12