Resumo

CIFUENTES C, Yolanda et al. Neonatal hyperammonemia in urea cycle disorders patients. rev.fac.med. [online]. 2010, vol.58, n.4, pp.316-323. ISSN 0120-0011.

The urea cycle disorders result from deficiency of activity of enzymes N-acetyl glutamate synthetase, carbamyl phosphate synthase, ornithine transcarbamylase, argininosuccinic acid synthetase, argininosuccinic acid lyase and arginase. Except for the last one, the clinical features are similar and related with the hiperammonaemia. It reports three full term, newborn cases, they had encephalopathy and needed respiratory support after be well in neonatal period. They had hyperammonemia as inborn error. The thin layer amino acids chromatography showed alanine and glutamine, in the siblings appeared citruline, suggesting urea cycle disorders. Despite protein restriction diet, sodium benzoate administration, blood exchange and peritoneal dialysis,babies died. High argininosuccinic acid levels in the first case and high citrulline levels with argininosuccinic acid absence in the third case, which was diagnosed as argininosuccinic aciduria with citrullinemia. This report provide an overview of neonatal hyperammonemia causes and propose a secuency for diagnosis

Palavras-chave : infant; newborn; brain diseases; hyperammonemia; citrullinemia; argininosuccinic acid; metabolism; in born errors.

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