Neonatal liver failure: a genetic and metabolic perspective.
Liver failure in newborns can present formidable diagnostic challenges. The presentation of neonatal liver failure is variable and the initial assessment is crucial in the determination of potentially treatable causes. We present a case of neonatal hemochromatosis, review genetic and metabolic causes of neonatal liver failure, and outline an updated differential diagnosis of neonatal liver failure. In addition, we propose a comprehensive initial work-up of neonatal liver failure, and review current treatments for neonatal hemochromatosis.
Saenz
Margarita Sifuentes
MS
Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Denver, Colorado, USA. saenz.margarita@tchden.org
Van Hove
Johan
J
Scharer
Gunter
G
D006432:Hemochromatosis / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D017093:Liver Failure / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008297:Male