Very Long-Chain Fatty Acid Dehydrogenase Deficiency In Newborn

NİLÜFER GÜZOĞLU, BİRGÜL SAY, NURDAN URAS, UĞUR DİLMEN

  • NİLÜFER GÜZOĞLU: ZEKAİ TAHİR BURAK EAH
  • BİRGÜL SAY: DERİNCE EĞİTİM ARAŞTIRMA HASTANESİ
  • NURDAN URAS: ZEKAİ TAHİR BURAK EAH
  • UĞUR DİLMEN: ZEKAİ TAHİR BURAK EAH
  • 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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Conflict of interest : Yok
This article is published under the CC BY-NC 4.0 license.
Selcuk Medical Journal
2014, Vol. 30 (3)
ISSN: 1017-6616
E-ISSN: 2149-8059
Received : , Accepted : , Published Online :