RESUMO
The report discusses the first results obtained by chromatographic screening of the blood amino acids in pregnant women at the outset of pregnancy. Typical cases of maternal phenylketonuria and maternal hyperphenylalaninaemia found among 2,000 women examined are described in detail, giving a concise metabolic, clinical and genetic picture. The biochemical possibilities of diagnosing congenital disorders of amino acid metabolism before birth are also discussed.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Diagnóstico Pré-Natal , Erros Inatos do Metabolismo dos Aminoácidos/genética , Aminoácidos/análise , Líquido Amniótico/análise , Feminino , Humanos , Recém-Nascido , Masculino , Programas de Rastreamento , Linhagem , GravidezRESUMO
When screening mentally backward children we detected a 5-year-old child with elevated urinary glycine excretion and a high blood glycine level. The report discusses the results of a clinical, metabolic and genetic examination of the child and the members of his family with reference to this rare metabolic disorder.