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.

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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