A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.
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.
Aliefendioğlu
Didem
D
Faculty of Medicine, Department of Pediatrics, Neonatology Unit, University of Kirikkale, Kirikkale, Turkey. didem.aliefendioglu@gmail.com
Dursun
Ali
A
Coşkun
Turgay
T
Akçören
Zuhal
Z
Wanders
Ronald J A
RJ
Waterham
Hans R
HR
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics; D009202:Cardiomyopathies / Q000235:genetics; D004796:Clinical Enzyme Tests; D005234:Fatty Liver / Q000473:pathology; D005260:Female; D006801:Humans; D034141:Hypoalbuminemia / Q000235:genetics; D007003:Hypoglycemia / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology*; D008099:Liver / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense; D010641:Phenotype
D044942:Acyl-CoA Dehydrogenase, Long-Chain