Related Experiment Videos
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.
Background:
Acute intermittent porphyria is a hereditary error of porphyrin metabolism in which the main metabolic defect is caused by a decrease in porphobilinogen deaminase activity. Previous work has demonstrated a higher prevalence of acute intermittent porphyria in the psychiatric patient population than in the general population. The goal of this study was evaluate 300 psychiatric patients and 150 control subjects to detect acute intermittent porphyria by measurement of porphobilinogen (PBG) deaminase activity in blood.
Methods:
Screening for porphobilinogen deaminase activity was carried out by fluorometric measurement of porphyrins synthesized during 1 h in blood and the measurement of delta-aminolevulinic acid and porphobilinogen in urine.
Results:
We found two psychiatric patients, one male and one female, with decreased porphobilinogen deaminase activity. When the families of these patients were studied, one brother was found to have an abnormality. Among controls, a woman was found to have the abnormality and her father was found to have typical features of the disease.
Conclusions:
These results indicate a prevalence of porphyria in Mexican psychiatric patients similar to controls, and that measurement of PBG deaminase activity is a good tool for defining acute intermittent porphyria carriers.
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.