Acute intermittent porphyria-a review | [Journal of College of Physicians and Surgeons--Pakistan : JCPSP • 2001]

Author(s):

1. Farrukh Iqbal: Department of Medicine, Shaikh Zayed Hospital, Federal Postgraduate Medical Institute, Lahore, Pakistan.

2. Durrenajaf Siddique: Department of Medicine, Shaikh Zayed Hospital, Federal Postgraduate Medical Institute, Lahore, Pakistan.

Abstract:

Porphyrias are disorders involving enzymes in the heme biosynthetic pathway. Defects leading to porphyria have been identified in 7 out of 8 enzymes involved in the biosynthesis of heme. Diagnosis can be made by assay of porphyrin metabolites in plasma, urine and stool. Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a defect in hydroxymethylbilane (HMB) synthase activity. Abdominal pain is the most common symptom during an acute attack, but a variety of other symptoms also occur due to involvement of autonomic, central and peripheral nervous system. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is also described. Defect in HMB synthase accumulate alpha-aminolevulinic acid (ALA) and porphobilinogen (PBG) in the body, leading to its increased excretion in urine. To confirm the diagnosis, red blood cell (RBC), HMB synthase activity is determined. The treatment of an acute attack of AIP is high carbohydrate intake and intravenous (i/v) hematin

Page(s): 176-182

DOI: DOI not available

Published: Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 11, Issue: 3, Year: 2001

Keywords:

Porphobilinogen deaminease Hydroxymethylbilane synthetase Chromosome abnormalities Porphyria Porphyria , acute intermittent

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