The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

• Main Authors: Jessica R. C. Priestley (Author), Hana Alharbi (Author), Katharine Press Callahan (Author), Herodes Guzman (Author), Irma Payan-Walters (Author), Ligia Smith (Author), Can Ficicioglu (Author), Rebecca D. Ganetzky (Author), Rebecca C. Ahrens-Nicklas (Author)
• Format: Book
• Published: MDPI AG, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Tyrosinemia type I (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once fatal in most infantile-onset cases, pre-symptomati...