Controversias en la clasificación de las hiperfenilalaninemias. Propuesta de unificación
Controversias en la clasificación de las hiperfenilalaninemias. Propuesta de unificación
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关于髋丙氨酸血症分类的争议。
DOI：
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发表时间：
2007
期刊：
影响因子：
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通讯作者：
Marcela Vela
中科院分区：
文献类型：
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作者：
Carlett Ramirez;Martha Elva Pérez;Isabel Ibarra;Marcela Vela
高苯丙氨酸血症 (HPA) 是常染色体隐性遗传性先天代谢性疾病，其特征是无法代谢苯丙氨酸 (PHE)；这种氨基酸水平的增加会导致不可逆的神经损伤。 HFA 的程度与治疗方法一样多。由于意见不同，对这些疾病的分类一直是一项艰巨的任务。目的：回顾 HPA 的现有分类并为墨西哥患者提出一种分类。方法：通过 MEDLINE (PubMed) 回顾了 HPA 和苯丙酮尿症 (PKU) 的分类和参考文献。结果：主要标准为血清PHE、PHE/TYR系数、PHE饮食耐受性和酶活性。根据生化特征，HPA 有多种分类。其他术语是根据病情的严重程度而定的。我们发现 HPA 有 28 种不同的分类，PKU 有 23 种不同的分类。结论：我们提出根据血清 PHE 浓度对墨西哥患者的 HPA 进行如下分类：良性 HPA，2-4 mg/dL；良性 HPA，2-4 mg/dL；轻度 HPA，有临床意义，4-10 mg/dL；中度 HPA，10-16.6 毫克/分升；经典 PKU，≥ 16.6 mg/dL。
Hyperphenylalaninemias (HPA) are autosomal recessive inborn metabolic diseases, characterized by the inability to metabolize phenylalanine (PHE); the increase levels of this amino acid results in irreversible neurological damage. There are as many degrees of HFA, as therapeutic approaches. Classification of these disorders has been difficult task due to the dif ferent opinions. Objetive: To review the existing classifications for HPA and to propose one for Mexican patients. Methodology: The literature on classifications and references for HPA and phenylketonuria (PKU) was reviewed through MEDLINE (PubMed). Results: The main criteria were serum PHE, PHE/TYR coefficient, PHE dietetic tolerance, and enzymatic activity. There were numerous classifications of HPA based on biochemical features. Other nomenclatures were based on the severity of the conditon. We found 28 dif ferent classifications for HPA and 23 for PKU. Conclusions: We propose a classification of HPA in Mexican patients through the concentration of serum PHE as follows: benign HPA, 2-4 mg/dL; mild HPA, clinically significant, 4-10 mg/dL; moderate HPA, 10-16.6 mg/dL; classical PKU, ≥ 16.6 mg/dL.