[Acute intermittent porphyria and chronic transaminase elevation].
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.
Raigal Martín
M Yolanda
MY
Medicina Familiar y Comunitaria, Area 5, Madrid, Spain. yraigal63@yahoo.es
Lledó Navarro
José Luis
JL
Raigal Martín
José María
JM
Muriel Patino
Eva
E
Pérez Pérez
Encarnación
E
Moreno Prat
Miriam
M
D015746:Abdominal Pain / Q000209:etiology; D000410:Alanine Transaminase / Q000097:blood*; D004912:Erythrocytes / Q000201:enzymology; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D017118:Porphyria, Acute Intermittent / Q000150:complications / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics
D011163:Hydroxymethylbilane Synthase; D000410:Alanine Transaminase