A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings

Didem Aliefendioğlu, Ali Dursun, Turgay Coşkun, Zuhal Akçören, Ronald J. A. Wanders, Hans R. Waterham

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Here we report a newborn with VLCAD deficiency with a severe neonatal onset type who presented with hypoglycemia, cardiomyopathy, mild hepatomegaly and slight hypoalbuminemia. The patient was also homozygous for a new missense mutation (R456H). Postmortem examination of the liver, heart and skeletal muscle revealed diffuse lipid accumulation in various amounts. Mild lobular and portal fibrosis as well as severe macrovesicular steatosis were also found in the liver. The fatal course of the patient may have resulted from diffuse lipid accumulation in the liver and myocardium, which probably began during the intrauterine life with slight hypoalbuminemia as a silent marker of this process
Original languageEnglish
Pages (from-to)1077-1080
JournalEuropean Journal of Pediatrics
Issue number10
Publication statusPublished - 2007

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