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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| Main Authors: | , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Universidad de las Ciencias Médicas de Cienfuegos
2023-11-01
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| Series: | Revista Finlay |
| Subjects: | |
| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/1317 |
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| Summary: | <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. |
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| ISSN: | 2221-2434 |