[Acute intermittent porphyria and chronic transaminase elevation]. / Porfiria aguda intermitente y elevación crónica de las transaminasas.

Acute intermittent porphyria is an autosomal dominant inherited disorder resulting from a deficiency of porphobilinogen deaminase activity, the third enzyme in the heme biosynthesis pathway. This disease is uncommon, although the prevalence is higher in asymptomatic heterozygotic carriers; however, this prevalence is difficult to establish because of the absence of symptoms. Although acute intermittent porphyria is a multisystemic disease, its most common form of presentation is abdominal pain and neurological or mental symptoms, which can sometimes be due to precipitating factors such as reduced energy intake, smoking, alcohol, some drugs, and stress. Diagnosis can be made by testing urinary porphobilinogen levels, with subsequent measurement of enzyme activity and DNA testing. Treatment is based on prevention of porphyria attacks by avoiding precipitating factors and early administration of intravenous glucose or hemin therapy. We present the case of a patient diagnosed with acute intermittent porphyria based on study of chronic mild alanine aminotransferase (ALT) elevation.

Porfiria aguda intermitente y elevación crónica de las transaminasas / Acute intermittent porphyria and chronic transaminase elevation

La porfiria aguda intermitente es un trastorno hereditario autosómico dominante producido por un déficit en la actividad enzimática de la porfobilinógeno deaminasa, la tercera enzima en la síntesis del hemo. Se trata de una enfermedad rara, aunque los portadores heterocigotos asintomáticos tienen una prevalencia mayor, difícil de establecer dada la ausencia de clínica. Aunque la porfiria aguda intermitente es una enfermedad multisistémica, su presentación más frecuente es el dolor abdominal y los síntomas neurológicos o psiquiátricos, a veces debidos a algunos factores precipitantes, como la baja ingesta energética, el tabaco, el alcohol, algunos fármacos y el estrés. El diagnóstico se puede realizar midiendo el nivel de porfobilinógeno urinario, con posterior análisis de la actividad de la enzima defectuosa y estudio del ADN. El tratamiento se basa en la prevención de los ataques de porfiria, evitando los factores desencadenantes, y en la administración precoz de glucosa i.v. o tratamiento con hematina. Presentamos el caso de una paciente diagnosticada de porfiria aguda intermitente a partir del estudio de una elevación crónica leve de la GPT

Acute intermittent porphyria is an autosomal dominant inherited disorder resulting from a deficiency of porphobilinogen deaminase activity, the third enzyme in the heme biosynthesis pathway. This disease is uncommon, although the prevalence is higher in asymptomatic heterozygotic carriers; however, this prevalence is difficult to establish because of the absence of symptoms. Although acute intermittent porphyria is a multisystemic disease, its most common form of presentation is abdominal pain and neurological or mental symptoms, which can sometimes be due to precipitating factors such as reduced energy intake, smoking, alcohol, some drugs, and stress. Diagnosis can be made by testing urinary porphobilinogen levels, with subsequent measurement of enzyme activity and DNA testing. Treatment is based on prevention of porphyria attacks by avoiding precipitating factors and early administration of intravenous glucose or hemin therapy. We present the case of a patient diagnosed with acute intermittent porphyria based on study of chronic mild alanine aminotransferase (ALT) elevation