Porfiria Intermitente Aguda

The porphyrias are a heterogeneous group of metabolic disorders that result from the decreased activity of a specific enzyme of the heme pathway . Acute Intermittent Porphyria (AIP) is the most common of the acute hepatic porphyrias. It is an autosomal dominant disorder caused by a deficient activity of porphobilinogen deaminase, causing an increase in the urinary excretion of ALA and PBG. We present the case of a young argentinean woman who presented after puberty acute neurovisceral signs including intermittent attacks of abdominal pain, constipation, vomiting, hypertension, tachycardia, fever, and various peripheral and central nervous system manifestations. Acute attacks resulted from exposure to diverse porphyrinogenic drugs, such as reduced calories intake due to fasting or dieting, infections, and hormones which stimulate heme synthesis by ALA-synthase induction, thereby increasing the production of the porphyrin precursors ALA and PBG. Light exposure revealed a dark urine. Glucose perfusion during acute atacks ameliorated symptoms

AIP is the most common acute porphyria in Argentina. It is an autosomal dominant disorder with incomplete penetrance. Enzyme PBG assay is only about 80% accurate so, the use of molecular techniques to identify specific mutations in the HMBS gene is essential for accurate diagnosis of affected members in AIP families.