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[Acute intermittent porphyria]

R Mijosević¹, N Suvajdzić, G Janković

¹Institute of Haematology, University Clinical Centre, Belgrade.

Srpski Arhiv Za Celokupno Lekarstvo

|March 1, 1993

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Acute intermittent porphyria (AIP) is a genetic disorder affecting heme synthesis. Successful treatment of a young woman with AIP using the novel drug heme-arginate is presented.

Area of Science:

Biochemistry
Genetics
Pharmacology

Background:

Acute intermittent porphyria (AIP) is an inherited metabolic disorder.
It results from a genetic deficiency in the enzyme prophobilinogen deaminase, crucial for heme synthesis.
This deficiency leads to the overproduction and accumulation of heme precursors.

Observation:

A young woman presented with the characteristic clinical signs and symptoms of AIP.
The patient's condition required effective therapeutic intervention.

Findings:

The patient was successfully treated with heme-arginate, a newly synthesized therapeutic agent.
Heme-arginate has been in clinical use since 1985, indicating established, albeit recent, therapeutic application.

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Implications:

This case highlights the efficacy of heme-arginate in managing acute intermittent porphyria.
Successful treatment underscores the importance of targeted therapies for rare genetic diseases.
The use of heme-arginate offers a viable therapeutic option for patients with AIP.