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Prevalence of acute intermittent porphyria in a Mexican psychiatric population

A Jara-Prado1, P Yescas, F J Sánchez

  • 1Departamentos de Genética y Biología Molecular, y Neuroquímica, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, México, D.F., Mexico.

Archives of Medical Research
|November 9, 2000
PubMed
Abstract

Insights

This study found a similar prevalence of acute intermittent porphyria (AIP) in Mexican psychiatric patients and controls. Measuring porphobilinogen deaminase activity effectively identifies AIP carriers.

Area of Science:

  • Biochemistry
  • Genetics
  • Clinical Medicine

Background:

  • Acute intermittent porphyria (AIP) is a hereditary metabolic disorder affecting porphyrin metabolism, characterized by decreased porphobilinogen deaminase activity.
  • Previous research suggests a higher prevalence of AIP in psychiatric populations compared to the general population.

Purpose of the Study:

  • To evaluate the prevalence of AIP in 300 psychiatric patients and 150 control subjects.
  • To detect AIP by measuring porphobilinogen (PBG) deaminase activity in blood.

Main Methods:

  • Screening involved fluorometric measurement of porphyrin synthesis in blood over 1 hour.
  • Urinary delta-aminolevulinic acid and porphobilinogen levels were also measured.

Main Results:

  • Two psychiatric patients (one male, one female) exhibited decreased PBG deaminase activity.
  • Family studies revealed an affected brother in one patient's family.
  • A control subject, a woman, also showed the abnormality, with her father presenting typical AIP features.

Conclusions:

  • The prevalence of AIP in Mexican psychiatric patients is similar to that in control groups.
  • Measuring PBG deaminase activity is a reliable method for identifying carriers of acute intermittent porphyria.

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