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

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

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 detect...

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Bibliographic Details
Main Authors: Ulrike Steuerwald, Allan M. Lund, Jan Rasmussen, Nils Janzen, David M. Hougaard, Nicola Longo
Format: Article
Language:English
Published: MDPI AG 2017-02-01
Series:International Journal of Neonatal Screening
Subjects:
primary carnitine deficiency
carnitine uptake defect
newborn screening
fatty acid oxidation
SLC22A5
OCTN2
mutations
maternal carnitine deficiency
Faroe Islands
Online Access:http://www.mdpi.com/2409-515X/3/1/1

Internet

http://www.mdpi.com/2409-515X/3/1/1

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