Quantitative Succinylacetone Measurement by Gas Chromatography‐Tandem Mass Spectrometry (GC–MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias

ABSTRACT Tyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal, hence are readily recognized by traditio...

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Hauptverfasser:	Denis Cyr, Bruno Maranda, Paula J. Waters
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2026-03-01
Schriftenreihe:	JIMD Reports
Schlagworte:	gas chromatography‐tandem mass spectrometry hypersuccinylacetonemia maleylacetoacetate isomerase succinylacetone tyrosinemia
Online-Zugang:	https://doi.org/10.1002/jmd2.70078
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