RESUMO
Methylmalonic acidemia is an inborn error of organic acid metabolism resulting from defects in methylmalonyl CoA mutase. Analysis of plasma free amino acids in a 15-month-old Thai infant by HPLC showed marked elevation of glycine. HPLC analysis of urinary organic acids showed high levels of methylmalonic acid.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Aminoácidos/sangue , Ácidos Carboxílicos/urina , Feminino , Humanos , Lactente , Ácido Metilmalônico/sangueRESUMO
Maple syrup urine disease is a rare inborn error of metabolism, characterized by elevated plasma levels of branched chain amino acids and urinary excretion of branched chain keto acids. Plasma amino acid levels in two subjects were followed by deproteinizing plasma, derivatizing the free amino acids with phenylisothiocyanate, and analysis by HPLC. The results indicate that valine, leucine and isoleucine are elevated in Maple syrup urine disease, and that leucine remains high even after dietary treatment.