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Acute intermittent porphyria: Diagnostic dilemma and treatment options
Mohan Deep Kaur1, Nita Hazarika1, Namita Saraswat1
1Department of Anaesthesia and Critical Care, PGIMER and Dr. RML Hospital, New Delhi, India.
Abstract:
Acute intermittent porphyria (AIP) presents with diverse group of symptoms making its early diagnosis difficult. Delaying diagnosis and treatment of AIP can be fatal or can cause long term or permanent neurological damage. We present here a case report of AIP where the diagnosis was missed. The diversity of symptoms and details concerning the treatment options for AIP are discussed.
Insights
Acute intermittent porphyria (AIP) has varied symptoms, delaying diagnosis and treatment. This case report highlights a missed diagnosis and discusses AIP
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Acute intermittent porphyria (AIP) is a rare genetic metabolic disorder.
- AIP is characterized by a deficiency in the enzyme hydroxymethylbilane synthase (HMBS).
- Clinical presentation of AIP is highly variable, complicating early diagnosis.
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