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

Authors
  • Rasmussen, Jan1
  • Hougaard, David M2
  • Sandhu, Noreen2
  • Fjællegaard, Katrine3
  • Petersen, Poula R3
  • Steuerwald, Ulrike4, 5
  • Lund, Allan M6
  • 1 Department of Internal Medicine, National Hospital, FO-100, Torshavn, Faroe Islands. [email protected] , (Faroe Islands)
  • 2 Section of Neonatal Screening and Hormones, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark. , (Denmark)
  • 3 Department of Internal Medicine, National Hospital, FO-100, Torshavn, Faroe Islands. , (Faroe Islands)
  • 4 Department of Occupational and Public Health, National Hospital System, Torshavn, Faroe Islands. , (Faroe Islands)
  • 5 Screening-Laboratories Hannover, Hannover, Germany. , (Germany)
  • 6 Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. , (Denmark)
Type
Published Article
Journal
JIMD reports
Publication Date
Jan 01, 2017
Volume
36
Pages
35–40
Identifiers
DOI: 10.1007/8904_2016_30
PMID: 28105570
Source
Medline
Keywords
Language
English
License
Unknown

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. 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. 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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