ArticleIndian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine2016
Acute intermittent porphyria: A critical diagnosis for favorable outcome.
Article in Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene.Frontiers in genetics · 2023Article
- Acute Intermittent Porphyria in Prepubertal Child-diagnostic and Therapeutic Challenges in India: A Case Report and Literature Review.Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine · 2022Article
- Acute porphyrias - A neurological perspective.Brain and behavior · 2021Review
- A Case of Acute Intermittent Porphyria Mimicking Guillain-Barré Syndrome.Noro psikiyatri arsivi · 2019Article
- Desensitization in patients with hypersensitivity to haem arginate: A case report.The World Allergy Organization journal · 2019Article
- Article
- Erratum: Acute intermittent porphyria: A critical diagnosis for favourable outcome.Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acute intermittent porphyria (AIP) is an inherited metabolic disorder characterized by the accumulation of toxic metabolites of the heme pathway. It rarely presents in the prepubertal age group. AIP often presents with nonspecific and nonlocalizing symptoms. Moreover, several commonly used medications and stress states are known to precipitate an attack. We present the case of a previously healthy 5 years female who was diagnosed as acute central nervous system infection/inflammation at admission. It was the presence of red flags that led to a correct diagnosis. Besides supportive management, a dedicated search for intravenous hemin (chemically heme arginate, aminolevulinic acid synthase inhibitor, and drug of choice) was attempted. Unexpected help was rendered by doctors from a medical college in Gujarat, and two ampoules could be obtained. The patient received three doses of intravenous hemin; however, she succumbed later. This case is presented for the diagnostic and therapeutic challenges faced in developing countries.
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