Nongenetic causes of hypertyrosinemia that must be considered when interpreting a finding of elevated urinary tyrosine

M. Virú-Loza
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Abstract

In several countries newborns are screened for tyrosinemia type 1 using tyrosine as a primary marker . In some situations elevated tyrosine levels in blood are discovered due to elevated tyrosine in a metabolic urine screening. In Peru, some pediatric patients suspected of having a genetic condition (inborn error of metabolism) undergo a metabolic urine screening that includes - among other things - qualitative detection of tyrosine. However, when there are elevated levels of tyrosine in urine this does not always mean that the patient has a genetic condition. Most often hypertyrosinemia has a non-genetic origin. Therefore, it is important to review the non-genetic causes of hypertyrosinemia and thus avoid potential misinterpretations of this finding. The genetic entities associated with increased levels of tyrosine are those that generate an enzymatic deficiency in the degradation of tyrosine, within which tyrosinemias type I, II or III are included (2,3). However, elevated tyrosine levels in the blood usually have a nongenetic cause. The most common non-genetic cause of increased tyrosine levels in the blood is transient tyrosinemia of the newborn. This is due to immaturity of enzymes involved in tyrosine degradation– such as 4-hydroxyphenylpyruvate dioxygenase– such as 4-hydroxyphenylpyruvate dioxygenase.
解释尿酪氨酸升高的发现时必须考虑的高酪氨酸血症的非遗传原因
在一些国家,新生儿使用酪氨酸作为主要标志物进行1型酪氨酸血症筛查。在某些情况下,血液中的酪氨酸水平升高是由于代谢性尿液筛查中的酪氨酸升高。在秘鲁,一些被怀疑患有遗传疾病(先天性代谢错误)的儿科患者接受了代谢尿液筛查,其中包括酪氨酸的定性检测。然而,当尿液中酪氨酸水平升高时,这并不总是意味着患者有遗传疾病。甲状腺机能亢进症通常是非遗传性的。因此,重要的是要回顾甲状腺机能亢进的非遗传原因,从而避免对这一发现的潜在误解。与酪氨酸水平增加相关的遗传实体是那些在酪氨酸降解中产生酶促缺陷的遗传实体,其中包括I型、II型或III型酪氨酸(2,3)。然而,血液中酪氨酸水平升高通常有非遗传原因。血液中酪氨酸水平升高的最常见的非遗传原因是新生儿的短暂性酪氨酸血症。这是由于参与酪氨酸降解的酶不成熟,如4-羟基苯基丙酮酸双加氧酶,如4-羟苯基丙酮酸双加氧酶。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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