Assuntos
Erros Inatos do Metabolismo dos Carboidratos , Desidrogenase do Álcool de Açúcar/deficiência , Xilulose/urina , Erros Inatos do Metabolismo dos Carboidratos/diagnóstico , Erros Inatos do Metabolismo dos Carboidratos/etiologia , Diagnóstico Diferencial , Genes Recessivos , Glucuronatos , Humanos , PrognósticoRESUMO
During a survey for genetic disorders, L-Xylulosuria, an autosomal recessive condition, was found to affect three cousins in an inbred family. There were no clinical symptoms.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/genética , Pentoses/urina , Xilulose/urina , Criança , Consanguinidade , Humanos , Masculino , LinhagemRESUMO
The urinary excretions of L-xylulose, xylitol and D-glucarate after the oral administration of glucuronolactone (5 g) were measured in normal healthy persons, patients with diabetes mellitus, acute hepatitis in recovery stage, chronic hepatitis and liver cirrhosis. In normal subjects, the mean value of L-xylulose excretion was 14.6 +/- 1.4 mumol/2 h with a range from 6.5 to 21.8. Marked increase of L-xylulose excretion was observed in cirrhotic patients, the mean value was 97.1 +/- 19.8 with a range from 22.0 to 236.6. Though some cases of acute and chronic hepatitis showed higher values than the normal range, no case exceeded 50 mumol/2 h. The urinary excretion of xylitol in cirrhotic patients was also higher than normal no increase was observed in D-glucarate excretion. The values of L-xylulose excretion in cirrhosis were correlated with the values of serum total bilirubin, albumin, albumin/globulin ratio, lactate dehydrogenase and prothrombin time. These findings indicate that the measurement of L-xylulose in urine after the oral glucuronolactone loading provides a useful tool for evaluation of the severity of liver cirrhosis.