A case of Hyperornithinemia-Hyperam monemia-Homocitrullinuria Syndrome: a Patient Who Visited the Emergency Center with Mental Change
Journal of the Korean Society of Emergency Medicine
;
: 225-228, 2008.
Artículo
en Coreano
| WPRIM
| ID: wpr-175582
ABSTRACT
Rapid ammonia elevation in blood with accompanying mental change should be considered as a true medical emergency. In such a case, action leading to immediate diagnosis and the earliest possible treatment must occur in order to minimize permanent brain damage. Hyperornithinemia- Hyperammonemia-Homocitrullinuria (HHH) syndrome is a rare inborn errors of metabolism and autosomal recessive metabolic disorder caused by a deficiency of the mitochondrial ornithine transporter at the cellular level. Emergency physicians should take account of the possibility of HHH syndrome in patients with unreasonable hyperammonemia coupled with altered mental status. We report a case of a 59-year old man who presented with headache, nausea, vomiting and altered mental status. His serologic test showed hyperornithinemia, hyperammomemia, and homocitrullinuria. He was treated with fluid therapy and hemodialysis. His clinical manifestation improved and he was discharged after hemodialysis
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ornitina
/
Vómitos
/
Encéfalo
/
Pruebas Serológicas
/
Diálisis Renal
/
Hiperamonemia
/
Sistemas de Transporte de Aminoácidos Básicos
/
Urgencias Médicas
/
Trastornos Innatos del Ciclo de la Urea
/
Fluidoterapia
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Society of Emergency Medicine
Año:
2008
Tipo del documento:
Artículo
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