Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia
<strong>Foundation:</strong> 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. <str...
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Universidad de las Ciencias Médicas de Cienfuegos
2023-11-01
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| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/1317 |
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| author | Iovana Fuentes Cortés Beliany Pacheco Suárez Dulce María Charón Savón |
| author_facet | Iovana Fuentes Cortés Beliany Pacheco Suárez Dulce María Charón Savón |
| author_sort | Iovana Fuentes Cortés |
| collection | DOAJ |
| description | <strong>Foundation:</strong> 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. <strong><br />Objective:</strong> to implement a work methodology for the detection of marker metabolites of type 1 tyrosinemia. <br /><strong>Method:</strong> 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. <br /><strong>Results:</strong> 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. <br /><strong>Conclusions:</strong> the implementation of the methodology turned out to be a valuable tool in the early diagnosis of the disease. |
| format | Article |
| id | doaj-art-c6c4e21913eb4238a5c01ef90f671ecb |
| institution | Kabale University |
| issn | 2221-2434 |
| language | Spanish |
| publishDate | 2023-11-01 |
| publisher | Universidad de las Ciencias Médicas de Cienfuegos |
| record_format | Article |
| series | Revista Finlay |
| spelling | doaj-art-c6c4e21913eb4238a5c01ef90f671ecb2025-01-30T21:22:02ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342023-11-01134425434679Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 TyrosinemiaIovana Fuentes Cortés0Beliany Pacheco Suárez1Dulce María Charón Savón2Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.<strong>Foundation:</strong> 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. <strong><br />Objective:</strong> to implement a work methodology for the detection of marker metabolites of type 1 tyrosinemia. <br /><strong>Method:</strong> 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. <br /><strong>Results:</strong> 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. <br /><strong>Conclusions:</strong> the implementation of the methodology turned out to be a valuable tool in the early diagnosis of the disease.https://revfinlay.sld.cu/index.php/finlay/article/view/1317marcadores bioquímicosdeficiencia de la enzimametodología |
| spellingShingle | Iovana Fuentes Cortés Beliany Pacheco Suárez Dulce María Charón Savón Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia Revista Finlay marcadores bioquímicos deficiencia de la enzima metodología |
| title | Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia |
| title_full | Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia |
| title_fullStr | Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia |
| title_full_unstemmed | Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia |
| title_short | Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia |
| title_sort | implementation of a methodology for the detection of biochemical markers in type 1 tyrosinemia |
| topic | marcadores bioquímicos deficiencia de la enzima metodología |
| url | https://revfinlay.sld.cu/index.php/finlay/article/view/1317 |
| work_keys_str_mv | AT iovanafuentescortes implementationofamethodologyforthedetectionofbiochemicalmarkersintype1tyrosinemia AT belianypachecosuarez implementationofamethodologyforthedetectionofbiochemicalmarkersintype1tyrosinemia AT dulcemariacharonsavon implementationofamethodologyforthedetectionofbiochemicalmarkersintype1tyrosinemia |