Archivos de Pediatría del Uruguay
versão impressa ISSN 0004-0584
INCORONATO, ANDREA et al. Deficiencia de ornitina transcarbamilasa: presentación de un caso. Arch. Pediatr. Urug. [online]. 2005, vol.76, n.3, pp. 234-238. ISSN 0004-0584.
Summary A 2 year-old patient with neurological and recurrent digestive symptoms with laboratory analysis consistent with primary hyperammonemia by ornithine transcarbamylase deficiency is presented. Lab studies and clinical manifestations were satisfactory once treatment started. Eventhough the symptoms are nonspecific, this disease should be suspected in children with neurological, digestive or psychiatric symptoms. Early diagnosis and treatment avoids hyperammonemia coma.
Palavras-chave : ORNITHINE CARBAMOYLTRANSFERASE -deficiency; HYPERAMMONEMIA.