Nongenetic causes of hypertyrosinemia that must be considered when interpreting a finding of elevated urinary tyrosine
Causas no genéticas de hipertirosinemia que deben considerarse al interpretar un hallazgo de tirosina elevada en orina
DOI:
https://doi.org/10.25176/RFMH.v23i1.3620Keywords:
Tyrosine, Enzymes, NewbornAbstract
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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