Abstract

HERNANDEZ ATCHESEN, Lisset  and  MASTRAPA REYES, Caridad Evangelina. Presentation of a Patient with Ornithine Transcarbamylase Deficiency. ccm [online]. 2015, vol.19, n.2, pp. 351-358. ISSN 1560-4381.

A two -year- old patient attended at Pediatric Intensive Care Unit of Octavio de la Concepción and Pedraja Provincial Teaching Hospital Holguín, with an emetic syndrome. To make urine gas chromatography was necessary to send the urine sample in a cooled flask and this in turn in a refrigerator at - 20 oC, the laboratory of the University Hospital of Freiburg, Germany. Definitive diagnosis was determined as a deficiency of ornithine transcarbamylase. Biochemical analysis forms the basis of the diagnosis of this disease, but the starting point in the investigation, the diagnostic hypothesis is formulated on the basis of clinical signs and symptoms of the patient. It was noted that there was no specific therapy. The patient presented a mild mental retardation as a long-term complication. It is important to perform early diagnosis to prevent death or sequelae, which may be preventable.

Keywords : ornithine transcarbamylase deficiency; Reye-Like; chromatography; hyperammonemia.

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