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[Abdominal pain]

S H Hartmeier1, P Bertschinger, P Greminger

  • 1Departement für Innere Medizin, Medizinische Poliklinik, Universitätsspital Zürich.

Praxis
|January 30, 1996
PubMed
Summary
This summary is machine-generated.

This case study highlights acute intermittent porphyria, a rare metabolic disorder. Diagnosis involved urine and stool porphyrin analysis, confirming the condition in a patient with severe abdominal pain.

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Area of Science:

  • Biochemistry
  • Internal Medicine
  • Genetics

Background:

  • Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder.
  • It results from a deficiency in the enzyme hydroxymethylbilane synthase (HMBS), also known as uroporphyrinogen synthase.
  • AIP is characterized by neurological and abdominal symptoms, but not skin manifestations.