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Revista Finlay
versão On-line ISSN 2221-2434
Resumo
FUENTES CORTES, Iovana; PACHECO SUAREZ, Beliany e CHARON SAVON, Dulce María. Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia. Rev. Finlay [online]. 2023, vol.13, n.4, pp. 425-434. Epub 30-Dez-2023. ISSN 2221-2434.
Foundation:
hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. Due to its metabolic complexity, its confirmation requires a set of highly expensive methods.
Objective:
to implement a work methodology for the detection of marker metabolites of type 1 tyrosinemia.
Method:
a descriptive and cross-sectional study was carried out in a series of cases evaluated in the period from January 2021 to February 2023. As an initial examination, qualitative tests of α nitroso beta naphthol and 2,4 dinitrophenylhydrazine were carried out for the identification of tyrosine and α keto acids respectively. Then, the HPLC method was performed for the quantification of tyrosine and GC-MS for the determination of the chromatographic profile in urine as confirmatory techniques.
Results:
qualitative tests were positive for tyrosine and its metabolites, as well as for alpha keto acids. The organic acid profile showed elevated excretion of the disease marker metabolites in 8 cases, in which tyrosine quantification was performed, which were positive for suffering from the disease.
Conclusions:
the implementation of the methodology turned out to be a valuable tool in the early diagnosis of the disease.
Palavras-chave : biochemical markers; enzyme deficiency; methodology.