RESUMO

A patient is described in whom lactic acidosis of very severe degree was found to coincide with the presence of beta-methylcrotonic acid and rho-hydroxyphenyllactic acid in urine in large amounts, while beta-hydroxyisovaleric acid was found to be a relatively minor excretion product. Beta-methylcrotonic acid is demonstrated, for the first time, to be present in blood and CSF. These findings are discussed in relation to the patients previously reported to have beta-methylcrotonylglycinuria and raise the possibility that our patient's organic aciduria may be secondary to acquired disease rather than to an inborn error of metabolism.

Assuntos

Butiratos/urina , Crotonatos/urina , Lactatos/urina , Doenças Metabólicas/urina , Aminoácidos/sangue , Aminoácidos/urina , Ácidos Carboxílicos/sangue , Ácidos Carboxílicos/líquido cefalorraquidiano , Humanos , Hidroxiácidos/urina , Recém-Nascido , Doenças Metabólicas/sangue , Doenças Metabólicas/líquido cefalorraquidiano , Fenóis/urina , Valeratos/urina