Very Long-Chain Fatty Acid Dehydrogenase Deficiency In Newborn

BİRGÜL SAY, NİLÜFER GÜZOĞLU, 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
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 they agree to allow the examination of data.
Very Long-Chain Fatty Acid Dehydrogenase Deficiency In Newborn
, 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;