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Acute Intermittent Porphyria in Prepubertal Child-diagnostic and Therapeutic Challenges in India: A Case Report and

Ankita Goel Sharma1, Kaveri Pandit1, Shalu Gupta1

  • 1Department of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children Hospital, New Delhi, India.

Indian Journal of Critical Care Medicine : Peer-Reviewed, Official Publication of Indian Society of Critical Care Medicine
|May 6, 2022
PubMed

Insights

Acute intermittent porphyria (AIP) is a rare metabolic disorder in children. This case highlights diagnostic and therapeutic challenges in managing AIP in developing countries, emphasizing early detection and treatment with intravenous hemin.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder typically presenting in adulthood.
  • Pediatric cases of AIP are infrequently reported, often exhibiting non-specific gastrointestinal and neuropsychiatric symptoms without a clear family history.
  • Attacks in children can be recurrent and triggered by factors like drugs or infections.

Keywords:
Acute intermittent porphyriaHeminHydroxymethyl bilane synthase gene mutationPediatric intensive care unitPrepubertal child

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