Clinical experience with hepatorenal tyrosinemia from a single Egyptian center.

Although very recently, in Egypt, sick newborn screening has included screening for hepatorenal tyrosinemia, yet, it is not yet included in nationwide neonatal screening and hence diagnosis may be delayed. The aim of this study was to analyze data of all cases presenting with hepatorenal tyrosinemia to the Pediatric Hepatology Unit, Cairo University, Egypt from 2006 to 2019. Data were retrieved from patients' files including age of onset of symptoms, clinical signs, blood counts, liver functions, serum phosphorous, alpha-fetoprotein, succinylacetone and abdominal ultrasound.