Nongenetic causes of hypertyrosinemia that must be considered when interpreting a finding of elevated urinary tyrosine
Mr. Editor. In several countries, newborns are screened for tyrosinemia type 1 using tyrosine as a primary marker. In some situations, elevated blood tyrosine levels are discovered due to elevated tyrosine on a urine metabolic screen. In Peru, some pediatric patients suspected of having a genetic...
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| Format: | Article |
| Language: | Spanish |
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Universidad Ricardo Palma
2023-01-01
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| Series: | Revista de la Facultad de Medicina Humana |
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| Online Access: | http://revistas.urp.edu.pe/index.php/RFMH/article/view/3620 |
| Summary: | Mr. Editor.
In several countries, newborns are screened for tyrosinemia type 1 using tyrosine as a primary marker. In some situations, elevated blood tyrosine levels are discovered due to elevated tyrosine on a urine metabolic screen. In Peru, some pediatric patients suspected of having a genetic condition (inborn error of metabolism) undergo a metabolic screening in urine that includes - among other things - the qualitative detection of tyrosine. However, when there are high levels of tyrosine in the urine this does not always mean that the patient has a genetic condition. Hypertyrosinemia is most often non-genetic in origin. Therefore, it is important to review the non-genetic causes of hypertyrosinemia and thus avoid potential misinterpretations of this finding. |
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| ISSN: | 1814-5469 2308-0531 |