RESUMEN
Use of antibodies towards neutral alpha-glucosidase from human kidney brush border enabled to estimate distinctly the activity of acid alpha-glucosidase in urine of healthy persons and patients although the activity of neutral enzyme in urine exceeded markedly the acid enzyme activity. Simultaneous use of antibodies to both these enzymes permitted to estimate separately the activity of acid and neutral alpha-glucosidases in a mixture. Accuracy of these estimations was confirmed after consecutive use of these antibodies.
Asunto(s)
Pruebas Enzimáticas Clínicas , Glucano 1,4-alfa-Glucosidasa/orina , Glucosidasas/orina , Sueros Inmunes , alfa-Glucosidasas/orina , Glomerulonefritis/diagnóstico , Glucano 1,4-alfa-Glucosidasa/inmunología , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Humanos , Pruebas de Precipitina , alfa-Glucosidasas/inmunologíaRESUMEN
In the same family, the generalized or infantile form of acid maltase deficiency (glycogenosis type II, Pompe disease) and the muscular or adult-onset form affected different individuals. Autosomal-recessive inheritance for the two clinical forms was demonstrated in this family by assay of acid alpha-glucosidase in muscle, lymphocytes, cultured fibroblasts, and urine of asymptomatic relatives. Current biochemical techniques do not discriminate between persons heterozygous for the generalized form and those heterozygous for the muscular form. To explain the coexistence of both forms in the same family, the infant with the generalized form or her grandfather with the muscular form must have been a genetic compound of different mutant alleles for acid alpha-glucosidase.