Chester porphyria
Overview
Porphyrias are inborn errors of metabolism in which specific enzyme defects exist in the heme synthesis pathway. Chester porphyria is a unique type of porphyria, with the clinical picture of acute intermittent porphyria (AIP) and the biochemical defects of both acute intermittent porphyria and variegate porphyria (VP)
Symptoms
- Abdominal pain
- Constipation and vomiting
- Headache
- Seizures
- Paralysis
- Psychologic disturbance
- Palpitations
- High blood pressure
Causes
- Genetic studies have linked the Chester porphyria gene to chromosome arm 11q.7
- Some of the precipitating factors of Chester porphyria include the following drugs: Barbiturates, Aluminum hydroxide, Tricyclic antidepressants.
- Alcohol
- Other precipitating factors are as follows: Smoking, Surgery, Metabolic abnormalities such as hyponatremia (also listed as a complication)
Diagnosis
the diagnosis of porphyria is made on the basis of clinical symptoms, characteristic biochemical findings, and specific enzyme assays. In some cases however, these diagnostic tools reveal overlapping findings, indicating the existence of dual porphyrias with two enzymes of heme biosynthesis being deficient simultaneously.