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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| Main Authors: | , , , , , |
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| Format: | Book |
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MDPI AG,
2017-02-01T00:00:00Z.
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