Very Long-Chain Fatty Acid Dehydrogenase Deficiency In Newborn
NİLÜFER GÜZOĞLU, BİRGÜL SAY, NURDAN URAS, UĞUR DİLMEN
- Year : 2014
- Vol : 30
- Issue : 3
- Page :
137-138
Very long-chain fatty acid dehydrogenase (VLCAD) deficiency is
an autosomal recessive disorder of mitochondrial fatty acid oxidation.
Elevated plasma level of acyl-carnitine by Tandem mass spectrometry
prompts the diagnosis of VLCAD. We herein report a neonate with a
diagnosis of VLCAD whose mother’s pregnancy was complicated with
HELLP syndrome. Physical examination revealed poor peripheral
perfusion and hypotonia on the 15 days of life. Metabolic acidosis,
dilated cardiomyopathy developed during follow-up.
Cite this Article As :
Güzoğlu N,Say B,Uras N,Dilmen U.Yenidoğanda Çok Uzun Zincirli Yağ Asidi Dehidrogenaz
Eksikliği. Selcuk Med J 2014;30(3): 137-138
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Description :
None of the authors, any product mentioned in this article,
does not have a material interest in the device or drug. Research,
not supported by any external organization.
grant full access to the primary data and, if requested by the magazine
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Very Long-Chain Fatty Acid Dehydrogenase Deficiency In Newborn
2014,
Vol.
30
(3)
Received : 10.03.2013,
Accepted : 10.03.2013,
Published Online : 13.08.2018
Selçuk Tıp Dergisi
ISSN:1017-6616;
E-ISSN:2149-8059;