Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience.

ABSTRACT: Hereditary tyrosinemia type I (HT-1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow-up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options. However, the optimal biochemical monitoring remains debated. This study evaluated the clinical utility of NTBC measurements compared with established biomarkers in HT-1. In this retrospective single-centre study, we analysed biological data from 12 HT-1 patients treated with NTBC over 6 years. We analysed correlations between NTBC, succinylacetone, δ-aminolevulinic acid (δ-ALA) and alpha-fetoprotein concentrations, and compared tyrosine and phenylalanine levels in DBS and pl

SUBMITTER: Adam AS 

PROVIDER: S-EPMC12779275 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature