Article

NTBC dosing and outcomes in hereditary tyrosinemia type 1: insights from a representative human model and 99 patients

2025-10-07

Abstract excerpt

Hereditary tyrosinemia type 1 (HT1) is a rare and severe metabolic liver disorder caused by fumarylacetoacetate hydrolase (FAH) deficiency. The optimal dose and long-term effects of the only available treatment, nitisinone (NTBC), remain unclear due to the absence of clinical trial data. Here, we generated a representative human in vitro model of HT1 using iPSC-derived hepatocytes, which faithfully recapitulated k...

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Literature Corpus work: 5ba801fe-d269-5550-8266-43e289e50593
DOI: 10.1101/2025.10.06.680797

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