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Tyrosinemia - Europe PMC

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Last Updated: 13 May 2022

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Clinical experience with hepatorenal tyrosinemia from a single Egyptian center.

Although sick newborn screening in Egypt has included tests for hepatorenal tyrosinemia, however, it has yet to be included in national neonatal screening, and therefore diagnosis may be delayed. The aim of this research was to review reports of all patients presenting with hepatorenal tyrosinemia to the Pediatric Hepatology Unit, Cairo University, Egypt, from 2006 to 2019. If succinylacetone in a dry blood spot was elevated above 1 mol/L during this period, 76 patients were diagnosed with hepatorenal tyrosinemia if succinylacetone in a dry blood spot. In our cohort, 30 affected siblings with a similar clinical appearance were undiagnosed, with 30 of them suffering undiagnosed. In 39 percent and 45 percent respectively, ultrasound findings revealed hepatic focal lesions in 47 percent and enlarged echogenic kidneys in 39 percent and 45 percent respectively. Five out of seven children were treated with Nitisinone as a result of unavailability and high costs; seven out of them underwent liver transplantation.

Source link: https://europepmc.org/article/MED/35536841

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions