AI Article Synopsis
- The term 'porphyria' refers to a group of metabolic disorders linked to heme synthesis deficiencies, specifically highlighted by acute intermittent porphyria, caused by a lack of the enzyme porphobilinogen deaminase.
- A case study of a 40-year-old woman showed symptoms including abdominal pain, severe electrolyte imbalances, and neurological issues, leading to a diagnosis of acute intermittent porphyria after tests revealed elevated porphobilinogen.
- Treatment involved administering hemin to stabilize her condition, emphasizing that this genetic disorder predominantly affects women aged 20 to 40 and requires careful management to prevent complications like hyponatremia.
Article Abstract
The term ‘porphyria’ comes from the Greek ‘porphyra’. It refers to a heterogeneous group of metabolic disorders caused by the enzymatic deficiency in the biosynthesis of the heme group. Acute intermittent porphyria is caused by a deficiency of the porphobilinogen deaminase enzyme. A 40-year-old woman presented with abdominal pain for ten days (which required laparotomy that evidenced no surgical pathology), severe hydroelectrolytic disorder due to hyponatremia and resistant hypokalemia, persistent tachycardia and hypertension. Seven days later, she developed acute flabby quadriparesis and presented a single generalized tonic-clonic convulsive crisis. Neurophysiological studies supported mixed axonal polyneuropathy and urine results of porphobilinogen and porphyrins were elevated. After acute intermittent porphyria was diagnosed, hemin was administered, which stabilized the patient’s clinical signs and normalized the porphobilinogen. The prevalence of this entity is 1 in 2,000 people. It is an autosomal dominant disease, which affects mainly women between 20 and 40 years of age. This entity manifests with neurological and visceral symptoms. Management consists of hematin and dextrose administration avoiding hypotonic solutions because of the risk of exacerbating hyponatremia.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357387 | PMC |
| http://dx.doi.org/10.7705/biomedica.4767 | DOI Listing |
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