ArticleAnnals of Indian Academy of Neurology
Clinical, Biochemical Characteristics and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India.
Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 8 citations in OpenAlex.
- Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.Orphanet journal of rare diseases · 2025Article
- A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria.Qatar medical journal · 2022Article
- Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.Frontiers in genetics · 2020Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAcute intermittent porphyria (AIP) is an inherited metabolic disease characterized by disordered heme biosynthesis. There is no recent study reported from India. MATERIALS AND
methodsIt was a retrospective, observational study. Clinical records of patients of AIP with acute porphyric attacks admitted from April 2008 to December 2016 were analyzed.
resultsFifteen AIP patients constituted of eight females and seven males were analyzed. Mean age at presentation was 34.33 ± 15.86 years. Thirteen patients (86.67%) had acute flaccid paralysis (AFP). All of them had peripheral neuropathy. These patients concomitantly had abdominal pain, seizure, encephalopathy, autonomic hyperactivity, history of passage of dark urine, and electrolyte abnormality (hyponatremia) in various combinations. Abdominal pain was the presenting symptom in 11 (73.33%) patients. Seven (46.67%) patients had seizure episodes. Five patients (33.33%) had hyponatremia at presentation. Significantly higher percentage of them had seizure at presentation or during hospital stay (
conclusionPatients had severe neurological involvement manifesting mainly as AFP and seizure episodes. We recommend screening for AIP in patients presenting with features of AFP along with any combination of clinical/laboratory manifestations such as abdominal pain, seizure, encephalopathy, autonomic hyperactivity, passage of dark urine, and hyponatremia. Electrolyte abnormality in the form of hyponatremia was an important severity marker.
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