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2007, Number 6

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Acta Pediatr Mex 2007; 28 (6)

Controversies on the classification of hyperphenylalaninemias. Proposal for unification

Ramírez-Farías C, Pérez-Andrade ME, Ibarra-González I, Vela-Amieva M

Language: Spanish
References: 39
Page: 261-269
PDF size: 233.80 Kb.


ABSTRACT

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 different 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 different 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.


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