RESUMEN
Hereditary orotic aciduria is a rare metabolic disease that results from a defect of uridine-5-monophosphate synthase (UMPS). In affected patients, main clinical symptoms are a markedly increased urinary excretion of orotic acid combined with megaloblastic anemia. This report describes a new case of UMPS deficiency without megaloblastic anemia but with epilepsy.
Asunto(s)
Anemia Megaloblástica/complicaciones , Epilepsia/complicaciones , Enfermedades Metabólicas/complicaciones , Complejos Multienzimáticos/deficiencia , Orotato Fosforribosiltransferasa/deficiencia , Ácido Orótico/metabolismo , Orotidina-5'-Fosfato Descarboxilasa/deficiencia , Anemia Megaloblástica/metabolismo , Preescolar , Epilepsia/metabolismo , Humanos , Masculino , Enfermedades Metabólicas/genéticaRESUMEN
OBJECTIVE: High blood concentrations of bilirubin are toxic to the brain and may cause kernicterus. Therefore, determination of bilirubin levels is performed for many newborns, and several different methods are available. We compared 9 frequently used methods for bilirubin determination among newborns under routine conditions, to define their sequence of use. METHODS: In a prospective study, bilirubin concentrations were determined with 9 different methods, ie, 3 skin test devices, 3 nonchemical photometric devices (including 2 blood gas analyzers), and 3 laboratory analyzers. RESULTS: A total of 124 samples were obtained. All 3 laboratory methods showed very strong correlations with each other, and their means were used as comparison values. To these comparison values, the skin test devices had correlation coefficients between 0.961 and 0.966, and the nonchemical photometric devices between 0.980 and 0.994. Bland-Altman plots demonstrated good agreement with the comparison values for all nonchemical photometric devices. All skin test devices and 1 nonchemical photometric device underestimated bilirubin levels, particularly at high concentrations. CONCLUSIONS: In the routine care of newborns, the first method for bilirubin testing should be a skin test. If the skin test result exceeds 200 micromol/L and other analytes are to be determined with a nonchemical photometric device, then bilirubin can be included in this analysis and the result trusted up to 250 micromol/L. If the skin test result exceeds 200 micromol/L and only bilirubin concentrations are needed, then a standard laboratory method is the first choice, to avoid repeated blood sampling. Bilirubin concentrations from nonchemical photometric devices that exceed 250 micromol/L should be confirmed with standard laboratory methods.