RESUMEN
BACKGROUND: Immunochemical method of measuring Ceruloplasmin (Cp) levels for the diagnosis of Wilson's disease has replaced enzymatic method for the main reason of being more sensitive and quantitative. SETTINGS AND DESIGN: In this study, we compared both the methods for various factors such as sensitivity, specificity and the time consumed in the diagnosis of Wilson's disease. MATERIALS AND METHODS: Serum samples from patients (n=33) with a provisional diagnosis of Wilson's disease were analyzed for Cp levels by enzymatic copper oxidase method and immunochemical method using polyclonal antibodies specific to Cp embedded in agar. STATISTICAL ANALYSIS: Pearson's regression analysis was performed to compare the two methods. RESULTS: The mean Cp obtained by immunochemical method is 5.87 mm +/- 1.17 and by enzymatic method, it is 0.37 (Optical Density) +/- 0.136. Pearson's Regression analysis of the measurements showed a good correlation with an 'r' value of 0.765 between the two methods. CONCLUSION: A good correlation indicated that these two tests are comparable and thus both these methods can be used together for a definitive and better diagnosis of Wilson's disease.
Asunto(s)
Ceruloplasmina/análisis , Degeneración Hepatolenticular/diagnóstico , Oxidorreductasas/metabolismo , Bioensayo , Ceruloplasmina/metabolismo , Estudios de Factibilidad , Degeneración Hepatolenticular/enzimología , Degeneración Hepatolenticular/inmunología , Humanos , Inmunoquímica , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
Galactosemia is a rare inborn error of metabolism, which if detected can be treated effectively. Galactosemia can occur due to the deficiency of either galatose-1-phosphate uridyl transferase (GLUT) or galactokinase. Both these deficiencies have their characteristic presentation. In this case report we describe a 4-month-old infant who presented with clinical symptoms highly suggestive of GLUT deficiency but on investigation turned out to be galactokinase deficiency.
