[Hyperammonemic encephalopathy: nutritional assessment and management of a case]. / Encefalopatía hiperamoniémica: valoración y manejo nutricional a propósito de un caso.

OTC deficiency is a disorder of the urea cycle X-linked. It is manifested in men as severe hyperammonemia in the first days of life. In women the disease is milder severity. Various conditions cause decompensation with hyperammonemia. It could be fatal or cause permanent neurological damage. We report a 36 years old woman admitted for surgery, she suffered a decompensation in conjunction with surgical wound infection. Hyperammonemia caused neurological deterioration with decreased level of consciousness, tetraparesis and neurogenic dysphagia. The treatment consisting of low-protein diet, ammonium chelating drugs and dialytic measures, was effective in controlling hyperammonaemia and improving neurological status. This case illustrates the importance of nutritional support of patients with disorders of the urea cycle in the hospital because the descompensations are more frecuent here.

Encefalopatía hiperamoniémica; valoración y manejo nutricional a propósito de un caso / Hyperammonemic encephalopathy; nutritional assessment and management of a case

El déficit de Ornitintranscarbamilasa (OTC) es un trastorno del ciclo de la urea ligado al cromosoma X. Se manifiesta en el varón como hiperamoniemia severa en los primeros días de vida. En la mujer la enfermedad esmás leve. Diversas situaciones pueden provocar una descompensación con hiperamoniemia que puede ser letal o provocar daños neurológicos permanentes. Presentamos una mujer de 36 años que ingresó para cirugía y que sufrió una descompensación coincidiendo con infección de la herida quirúrgica. La hiperamoniemia provocó un deterioro neurológico con disminución del nivel de conciencia, tetraparesia y disfagia neurógena. Con tratamiento, que consistió en dieta hipoproteica, quelantes de amonio y medidas dialíticas, se consiguió controlar la hiperamoniemia y mejorar el estado neurológico. Este caso ilustra la importancia del soporte nutricional especializado de los pacientes con trastornos del ciclo de laurea en el ámbito hospitalario por darse frecuentemente situaciones que favorecen las descompensaciones (AU)

OTC deficiency is a disorder of the urea cycle X-linked. It is manifested in men as severe hyperammonemia in the first days of life. In women the disease is milder severity. Various conditions cause de compensation with hyperammonemia. It could be fatal or cause permanent neurological damage. We report a 36 years old woman admitted forsurgery, she suffered a de compensation in conjunction with surgical wound infection. Hyperammonemia caused neurological deterioration with decreased level of consciousness, tetraparesis and neurogenic dysphagia. The treatment consisting of low-protein diet, ammonium chelating drugs and dialytic measures, was effective incontrolling hyperammonaemia and improving neurological status. This case illustrates the importance of nutritional support of patients with disorders of the urea cyclein the hospital because the descompensations are more frecuent here (AU)