Chapter title |
Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.
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Chapter number | 198 |
Book title |
JIMD Reports - Volume 10
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Published in |
JIMD Reports, December 2012
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DOI | 10.1007/8904_2012_198 |
Pubmed ID | |
Book ISBNs |
978-3-64-237333-6, 978-3-64-237334-3
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Authors |
de Boer L, Kluijtmans LA, Morava E, L. de Boer, L. A. J. Kluijtmans, E. Morava |
Abstract |
Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1-5 μM, normal 20-55 μM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal value. At the age of 1 year, after interruption of carnitine supplementation for a 4-week period the carnitine profile was assessed and the free carnitine level had dropped to 10.4 μmol/l (normal: 20-55 μM) and total carnitine level had dropped to 12.7 μmol/l (normal: 25-65 μM). Transient carnitine deficiency was not likely anymore and DNA mutation analysis of the OCTN2 (SLC22A5) gene showed a homozygous c.136C>T (p.P46S) mutation, confirming the diagnosis of primary carnitine deficiency. We would like to emphasize that neonates with a primary carnitine deficiency might present with relatively high levels of total carnitine due to placental carnitine transfer, and also draw the attention to the importance of regular follow-up and the significance of genetic diagnostics in patients with a nonclassical presentation. |
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Mendeley readers
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Professor | 2 | 15% |
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Unknown | 5 | 38% |