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- W73735953 abstract "espanolLas porfirias son trastornos metabolicos causados por la alteracion en la actividad de las enzimas que intervienen en la ruta de biosintesis del grupo hemo. El patron especifico que une a los diferentes tipos es la acumulacion y excrecion de intermediarios del hemo, que se refleja en la sobreproduccion del sustrato sobre el que actua la enzima defectuosa. La Porfiria Aguda Intermitente (PAI) es un trastorno autosomico dominante que resulta de una deficiencia parcial de la porfobilinogeno deaminasa (PBGD). Los sintomas y signos de presentacion son inespecificos, estando el dolor abdominal presente en la mayoria de los casos, lo que motiva la consulta en emergencia. Se debe tener un alto indice de sospecha para llegar al diagnostico inicial de PAI e instituir un correcto y rapido tratamiento para aliviar los sintomas y evitar posibles secuelas neurologicas. EnglishPorphyria are metabolic disorders caused by alterations of the activity of the enzymes that intervene in the biosynthetic route of the heme group. The specific pattern linking the different types is the accumulation and excretion of intermediary hemes, reflected in the overproduction of the substrate on which the defective enzyme acts. Intermittent Acute Porphyria (IAP) is an autosomal dominant disorder caused by a partial deficiency in porphobilinogen deaminase activity (PBDG). Signs and symptoms are non-specific, with abdominal colic appearing in most cases, which leads to emergency treatment. There should be a high level of suspicion before an initial diagnosis of IAP and initiating appropriate and rapid treatment in order to alleviate symptoms and prevent possible neurological sequels." @default.
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- W73735953 date "2011-01-01" @default.
- W73735953 modified "2023-09-23" @default.
- W73735953 title "Porfiria: presentación de dos casos de Porfiria aguda intermitente en emergencia y revisión del tema" @default.
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