RESUMO
By a retrospective study on a two-year period (1494 patients) we have obtained evidence that the best method of screening aminoacidopathies is given by the ion-exchange chromatography of amino acids. This method gave the highest rates of diagnosis and allowed diagnosis of aminoacidopathies that other techniques such as thin-layer chromatography would fail to detect because the concentrations of some amino acids, although pathological, were too low. The diagnostic rate was markedly improved by a skilled clinical selection of the population studied.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Adolescente , Criança , Pré-Escolar , Cromatografia por Troca Iônica/métodos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
We determined age-related reference values for urinary free amino acids (in mmol/mol creatinine) in first morning urine specimens from 360 control subjects who were divided into nine age groups: birth to 1 month, 1-6 months, 6-12 months, 1-2 years, 2-4 years, 4-7 years, 7-10 years, 10-13 years, and older than 13 years. Except for taurine and 3-methylhistidine, the concentration of all the amino acids decreased with increasing age. The use of these results to detect aminoacidopathies and tubulopathies is discussed.