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Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands

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Medical Department, National Hospital of the Faroe Islands, Tórshavn 100, Faroe Islands
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Department of Occupational Medicine and Public Health, National Hospital of the Faroe Islands, Tórshavn 100, Faroe Islands
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Screening-Laboratory Hannover, POB 91 10 09, Hannover 30430, Germany
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Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Copenhagen 2100, Denmark
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Department of Clinical Chemistry, Medical School, Hannover 30625, Germany
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Danish Center for Neonatal Screening, Statens Serum Institut, Copenhagen S 2300, Denmark
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Division of Medical Genetics, Departments of Pediatrics and Pathology, and ARUP Laboratories, University of Utah, Salt Lake City, UT 84103, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Ralph Fingerhut
Int. J. Neonatal Screen. 2017, 3(1), 1; https://doi.org/10.3390/ijns3010001
Received: 17 November 2016 / Revised: 16 January 2017 / Accepted: 20 January 2017 / Published: 4 February 2017
Primary carnitine deficiency is caused by the defective OCTN2 carnitine transporter encoded by the SLC22A5 gene. A lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy, and arrhythmia. This condition can be detected by finding low levels of free carnitine (C0) in neonatal screening. Mothers with primary carnitine deficiency can also be identified by low carnitine levels in their infant by newborn screening. Primary carnitine deficiency is rare (1:40,000–1:140,000 newborns) except in the Faroe Islands (1:300) due to a founder effect. A specific mutation (c.95A>G, p.N32S) is prevalent, but not unique, with three additional mutations (c.131C>T/p.A44V, a splice mutation c.825-52G>A, and a risk-haplotype) recently identified in the Faroese population. In the Faroe Islands, several adult patients suffered sudden death from primary carnitine deficiency leading to the implementation of a nationwide population screening (performed after 2 months of age) in addition to universal neonatal screening. While most affected infants can be identified at birth, some patients with primary carnitine deficiency might be missed by the current neonatal screening and could be better identified with a repeated test performed after 2 months of age. View Full-Text
Keywords: primary carnitine deficiency; carnitine uptake defect; newborn screening; fatty acid oxidation; SLC22A5; OCTN2; mutations; maternal carnitine deficiency; Faroe Islands primary carnitine deficiency; carnitine uptake defect; newborn screening; fatty acid oxidation; SLC22A5; OCTN2; mutations; maternal carnitine deficiency; Faroe Islands
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Steuerwald, U.; Lund, A.M.; Rasmussen, J.; Janzen, N.; Hougaard, D.M.; Longo, N. Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands. Int. J. Neonatal Screen. 2017, 3, 1.

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