It is described as being a metabolic condition, which essentially means it is a condition of altered body biochemistry.
Pyroluria disrupts a very specific aspect of our human biochemistry involving haeme, an important chemical component of haemoglobin (the major oxygen carrying protein found in our red blood cells).
The condition was initially identified in the 1950's and was known as 'Malvaria'.
Pioneers in the field of Pyroluria research include Dr Abram Hoffer, Dr Humphrey Osmond and Dr Carl Pfeiffer.
The condition is recognized by Doctors of Orthomolecular Medicine, Orthomolecular Psychiatry and Integrative Medicine, but remains largely unknown in Orthodox Medicine.
The prevalence around the world varies dramatically, with estimates ranging from 1 in 500 to 1 in 50,000 people worldwide having a genetic trait that causes some form of Porphyria.
The condition is rare and has extremely varied presentations, including severe anaemia's, severe cutaneous blistering and serious digestive disturbances with seizures. Acute attacks often present during times of physiological stress.
To add further confusion to this condition, there are currently two methods of laboratory assessment for Pyrrole Disorder:
Pyrrole Testing
Testing the urine for hydroxyhemopyrrolin-2-one (HPL), the key structural component of Mauve Factor. This is the test that has been honed and developed with specificity for Pyroluria testing in mind.
Additionally, Porphyrin Testing is occasionally suggested as another laboratory option when investigations for Pyrrole Disorder are warranted.
Porphyrin Testing
We all make Porphyrins; they are essential structures required for the synthesis of haemoglobin and the cytochromes of energy production and liver detoxification pathways (to name a few). Naturally, we also must excrete Porphyrins to prevent their build up.
In orthodox medicine, a group of very rare diseases known as the Porphyrias involves the incorrect breakdown and excretion of haemoglobin. They are present is very large amounts in those with Porphyria and can be detected in blood, urine and fecal samples. The Porphyrias are readily diagnosed by laboratory testing, especially at or near the time of symptoms. However, the number of tests available is very large, and the results among laboratories are not always reliable. For these reasons, it is important to locate a laboratory skilled in performing tests for Porphyria and a physician skilled in interpreting the test results.
At present, some laboratories offer Porphyrin testing as an alternative to Pyrrole testing. Both the Porphyrin structures and Pyrrole structures are breakdown products of haemoglobin; Porphyrins can simply be broken down further into Pyrroles. Arguments in favor of Porphyrin testing are that the structures tested are relatively stable, though it is not specific for Pyrrole Disorder.
With Pyrrole testing, if followed correctly it is highly specific for Pyrrole Disorder, but the substance tested is very fragile and prone to breakdown if not handled correctly by patients and lab staff.
Laboratory research into Pyroluria has been occurring since the early 1970's, with pathology testing becoming more sensitive and specific in that time. Original research thought that Mauve Factor was a chemical compound known as kryptopyrrole. However, as technology has improved it has been identified that a related compound, hydroxyhemopyrrolin-2-one (HPL) is the key structural component of Mauve Factor.
Laboratories will usually be looking to detect HPL in their testing methods. Pyrroles are excreted from the body in urine, so this test is a reliable marker for detection of this metabolic condition.
The normal amount of HPL in urine is less than 10mcg (micrograms) per dl (decilitre), often written as < 10mcg/dl on testing reports. To put this in context; there are 1000 micrograms in a milligram, and 10 decilitres in a liter, so what is being detected is a very tiny amount, yet significant enough to confirm the condition is present.
Urine must be collected in two vials, one of which contains ascorbic acid (vitamin C). Both vials must be wrapped in foil and frozen immediately for transportation to the lab. The reason for foil wrapping and freezing is that Pyrroles break down quickly and are highly unstable when exposed to light. Pyrroles are also very sensitive to oxidation by air, which is another reason why samples need to be handled with care and that all instructions regarding the specimen are followed correctly.
Once at the laboratory, the urine sample is tested via a process known as spectrophotometry. Spectrophotometry is used extensively in pathology and research laboratories all over the world for many types of tests besides Pyroluria testing. It is a highly evidence based and reliable scientific technique when the detection of very small amounts of a substance is required. It is a relatively rapid method, where a machine known as a spectrophotometer measures the amount of light absorbed by the patients urine sample. Pyrroles absorb and reflect light at specific wavelengths, so their presence in urine can be detected by the spectrophotometer.
Positive Pyroluria: HPL > 20 mcg/dl
Testing can be extensive and it's impossible to interpret the results and self-prescribe without clinical expertise, so ensure you have organized an appointment with an Integrative doctor first. It may be the case that only very few tests need to be organized when you consult with a health professional with experience in testing for and treating Pyroluria.
References
Badawy A, Morgan, C. (1980). Tryptophan pyrrolase in haem regulation. The relationship between the depletion of rat liver tryptophan pyrrolase haem and the enhancement of 5-aminolaevulinate synthase activity by 2-allyl-2- Biochemical Journal. 186(3): 763-72
Harris K. Walsh Research Institute. BioBalance Conference. Pyroluria, Gold Coast Conference; seminar given 2013 April 17.
McGinnis W, Audhya T, Walsh W, Jackson J, McLaren-Howard J, Lewis A, et al. (2008). Discerning the Mauve Factor, Part 1. Alternative Therapies in Health and Medicine. 14 (2): 40-50
McGinnis W, Audhya T, Walsh W, Jackson J, McLaren-Howard J, Lewis A, et al. (2008). Discerning the Mauve Factor, Part 2. Alternative Therapies in Health and Medicine. 14 (3): 56-62