36 KB100 KB32 KB192920262010Battelino, TadejBratanič, NevenkaŽerjav-Tanšek, Mojcaštevilka:2letnik:79str. 164-172ISSN:1318-0347COBISSID:26740441URN:URN:NBN:SI:doc-KFYZAA2QslSlovensko zdravniško društvoZdravniški vestnikakutna hiperamoniemijaAmmoniaAmoniakBloodDiagnosisdiagnostikaEmergenciesFenilacetatiMetabolic DiseasesMetabolismPhenylacetatesPresnovne bolezniTherapyUrgentna stanjazdravljenjeDiagnoza in zdravljenje akutne hiperamoniemije| Diagnosis and early management of acute hyperammonaemia|Acute hyperammonaemia is a consequence of inborn defects of urea cycle or acute liver damage. Clinical presentation varies considerably with the age of the aff ected individual and includes nausea, vomiting, neuropsychiatric symptoms, convulsions and progressive lethargy with a deepening coma. Ammonia concentration above 200 microM is a medical emergency and requires prompt treatment, regardless of its aetiology. The acute management includes restriction of protein intake, glucose infusion suffi cient to maintain anabolic state, administration of ammonia scavengers (sodium benzoate, sodium phenylacetate, sodium phenylbutyrate), administration of urea cycle substratesand haemodialysis when the concentration of ammonia is exceedingly high or does not respond promptly to the medical treatment. Elevated ammonia concentration is neurotoxic and causes irreversible glial and neuronal damage resulting in cerebral oedema with poor outcome. Early diagnosis and prompt treatment are crucial and may considerably improve the clinical courseTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaSlovensko zdravniško društvo