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LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I.
Anal Chem. 2012 Jan 17; 84(2):1184-8.AC

Abstract

Tyrosinemia type 1 is caused by deficiency of fumarylacetoacetate hydrolase. The enzymatic defect impairs the conversion of fumarylacetoacetate to fumarate, causing accumulation of succinylacetone which induces severe liver and kidney dysfunction along with mutagenic changes and hepatocellular carcinoma. Treatment is based on nitisinone (NTBC), an enzymatic inhibitor which suppresses succinylacetone production. NTBC, which has dramatically changed the disease course improving liver and kidney functions and reducing risk of liver cancer, causes a side effect of the increase of tyrosine levels. Treatment is therefore based on the combination of NTBC with a protein-restricted diet to prevent the potential toxicity of excessive tyrosine accumulation. Long-term therapy requires a careful monitoring in blood of NTBC levels along with other disease biomarkers, which include succinylacetone, and a selected panel of circulating aminoacids. We have developed a straightforward and fast MS/MS method for the simultaneous determination of NTBC, succinylacetone, tyrosine, phenylalanine, and methionine on a dried blood spot requiring a 2 min run. A single assay suitable for quantitative evaluation of all biochemical markers is of great advance over conventional methods, especially in pediatric patients, since it reduces laboratory costs and blood sampling, is less invasive and particularly suitable for pediatric patients, and allows easier storage and shipping.

Authors+Show Affiliations

Mass Spectrometry Laboratory, Clinic of Pediatric Neurology, Meyer University Children's Hospital, Florence, Italy. giancarlo.lamarca@unifi.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22148291

Citation

la Marca, Giancarlo, et al. "LC-MS/MS Method for Simultaneous Determination On a Dried Blood Spot of Multiple Analytes Relevant for Treatment Monitoring in Patients With Tyrosinemia Type I." Analytical Chemistry, vol. 84, no. 2, 2012, pp. 1184-8.
la Marca G, Malvagia S, Materazzi S, et al. LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. Anal Chem. 2012;84(2):1184-8.
la Marca, G., Malvagia, S., Materazzi, S., Della Bona, M. L., Boenzi, S., Martinelli, D., & Dionisi-Vici, C. (2012). LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. Analytical Chemistry, 84(2), 1184-8. https://doi.org/10.1021/ac202695h
la Marca G, et al. LC-MS/MS Method for Simultaneous Determination On a Dried Blood Spot of Multiple Analytes Relevant for Treatment Monitoring in Patients With Tyrosinemia Type I. Anal Chem. 2012 Jan 17;84(2):1184-8. PubMed PMID: 22148291.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. AU - la Marca,Giancarlo, AU - Malvagia,Sabrina, AU - Materazzi,Serena, AU - Della Bona,Maria Luisa, AU - Boenzi,Sara, AU - Martinelli,Diego, AU - Dionisi-Vici,Carlo, Y1 - 2011/12/29/ PY - 2011/12/14/entrez PY - 2011/12/14/pubmed PY - 2012/5/16/medline SP - 1184 EP - 8 JF - Analytical chemistry JO - Anal. Chem. VL - 84 IS - 2 N2 - Tyrosinemia type 1 is caused by deficiency of fumarylacetoacetate hydrolase. The enzymatic defect impairs the conversion of fumarylacetoacetate to fumarate, causing accumulation of succinylacetone which induces severe liver and kidney dysfunction along with mutagenic changes and hepatocellular carcinoma. Treatment is based on nitisinone (NTBC), an enzymatic inhibitor which suppresses succinylacetone production. NTBC, which has dramatically changed the disease course improving liver and kidney functions and reducing risk of liver cancer, causes a side effect of the increase of tyrosine levels. Treatment is therefore based on the combination of NTBC with a protein-restricted diet to prevent the potential toxicity of excessive tyrosine accumulation. Long-term therapy requires a careful monitoring in blood of NTBC levels along with other disease biomarkers, which include succinylacetone, and a selected panel of circulating aminoacids. We have developed a straightforward and fast MS/MS method for the simultaneous determination of NTBC, succinylacetone, tyrosine, phenylalanine, and methionine on a dried blood spot requiring a 2 min run. A single assay suitable for quantitative evaluation of all biochemical markers is of great advance over conventional methods, especially in pediatric patients, since it reduces laboratory costs and blood sampling, is less invasive and particularly suitable for pediatric patients, and allows easier storage and shipping. SN - 1520-6882 UR - https://www.unboundmedicine.com/medline/citation/22148291/LC_MS/MS_method_for_simultaneous_determination_on_a_dried_blood_spot_of_multiple_analytes_relevant_for_treatment_monitoring_in_patients_with_tyrosinemia_type_I_ L2 - https://dx.doi.org/10.1021/ac202695h DB - PRIME DP - Unbound Medicine ER -