Chapter title |
Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?
|
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Chapter number | 30 |
Book title |
JIMD Reports, Volume 36
|
Published in |
JIMD Reports, January 2017
|
DOI | 10.1007/8904_2016_30 |
Pubmed ID | |
Book ISBNs |
978-3-66-256137-9, 978-3-66-256138-6
|
Authors |
Jan Rasmussen, David M. Hougaard, Noreen Sandhu, Katrine Fjællegaard, Poula R. Petersen, Ulrike Steuerwald, Allan M. Lund, Rasmussen, Jan, Hougaard, David M., Sandhu, Noreen, Fjællegaard, Katrine, Petersen, Poula R., Steuerwald, Ulrike, Lund, Allan M. |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 18 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 4 | 22% |
Student > Postgraduate | 2 | 11% |
Student > Doctoral Student | 1 | 6% |
Student > Ph. D. Student | 1 | 6% |
Student > Bachelor | 1 | 6% |
Other | 2 | 11% |
Unknown | 7 | 39% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 4 | 22% |
Biochemistry, Genetics and Molecular Biology | 3 | 17% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 6% |
Agricultural and Biological Sciences | 1 | 6% |
Nursing and Health Professions | 1 | 6% |
Other | 0 | 0% |
Unknown | 8 | 44% |