Pyroluria – the Stress Disorder
Pyrrole Disorder/Pyroluria or Pyrroles is a metabolic disorder that most commonly manifests as gut and mental health conditions. Some symptoms are vague, others are very definite and they vary widely from person to person. Before you switch off and think ‘I don’t have a mental health condition’, flick to the list at the bottom of the article and look at the symptom questionnaire to see whether this resonates with you or someone you know well.
Pyroluria is something I have personal experience with and understand its varied digestive, mental and systemic symptoms intimately. And I can tell you with experience and certainty: there is much work but there is a light at the end of the tunnel.
What is Pyroluria?
Pyroluria or Pyrrole disorder, also known as the ‘mauve factor’ (due to the slightly purple colour of the urine of those identified to have the disorder)- is a metabolic condition first identified by Dr Abram Hoffer and Dr Carl Pfeiffer in the 1950s USA.
It’s a metabolic condition which impacts synthesis and metabolism of haemoglobin, the oxygen carrying molecule in the blood. As with all cells in your body there are waste or by-products produced and the by-product of haemoglobin is a metabolite called hydroxyhemopyrrolin-2-one (HPL) also known as Pyrrole.
Pyrroles don’t really serve any useful biological purpose and are normally excreted by most of us uneventfully. In someone with Pyroluria, however, these pyrroles don’t get excreted and build up–even more so under stress of any kind. Pyrroles bind strongly with zinc and vitamin B6, making them largely unavailable to the body.
Zinc and B6 are nutrients critical for the functioning of our entire body and mind –including our digestion, immune system, hormonal balance, cognitive functioning and emotions. Over time, deficiencies can really take their toll on the way you feel and function and have serious consequences. Often people will go for years suffering the effects of Pyroluria regardless of what therapies they try or how well they eat.
As great quantities of zinc become unavailable to the body, an imbalance with zinc’s partner –copper is often created. Many of the symptoms exhibited by those with the disorder are due to this zinc/copper imbalance.
These nutrient deficiencies create biochemical imbalances in the body that often include:
- copper overload: read more about issues with copper HERE
- oxidative stress: more free radicals than anti-oxidants
- methyl/folate imbalances: these can impact many genetic processes via methylation pathways
- amino acid imbalances: leading to a lack of important mood regulators such as serotonin and dopamine
- heavy metal toxicity: accumulation of copper and mercury as well as others
Copper overload in particular can manifest in many ways, eg: anger, irritability, post partum depression, bipolar disorder, ADHD, autism and others. Having a copper overload leads to elevated levels of oxidative stress- it’s like rusting ‘on the inside’.
Many people with Pyrrolle disorder may have elevated levels of heavy metal toxicity, especially from Cadmium and Mercury as these ‘slot into’ places in the body where Zinc should normally be present.
Pyrolurics also have a greater than normal need for omega-6 fatty acids, particularly dietary arachidonic acid (AA–found readily in eggs, butter, red meat and liver) and the essential fatty acid GLA (gamma linolenic acid– found in supplements like black currant seed oil and evening primrose oil).
How common is Pyroluria?
The prevalence of Pyroluria is currently estimated at 10% of the population.
Pyroluria prevalence amongst those with mental health disorders is much higher:
- As much as 50% of those with autism
- 40% of alcoholics
- 70% of schizophrenics
- 70% of people with depression
- 30% of people struggling with ADD
However, Pyroluria isn’t limited to these populations. As much as 10% of the population may have this metabolic condition and not know it but may have lifelong symptoms associated with it that tend to worsen with age and stress. In fact, Pyroluria may lie ‘dormant’ until a stressful event triggers individual symptoms.
Is it genetic?
The research by William Walsh Phd suggests a strong genetic component to the condition. However, many people can experience a pyrrolle lab test elevation due to trauma and high stress even if there isn’t a genetic component, I see this in clinic often.
Usually, the genetic nature of Pyroluria comes through when several people in the family are affected or family history clearly shows symptoms, most commonly anxiety, depression, alcoholism, often abuse and childhood trauma.
Anecdotally, in my clinic population I notice a higher prevalence of Pyroluria in families with a history of alcoholism in the grandparents and often parents.
What are the symptoms of Pyroluria?
Symptoms vary widely by individual and may include but are not limited to the following. The list below may give you an indication that you may have a Pyrrole disorder, however it is not a diagnosis for Pyroluria. For a correct diagnosis a urine lab test must be completed. (see below)
Many people with Pyroluria report having these KEY symptoms their whole life, including childhood:
- severe inner tension
- ongoing anxiety and/or depression
- poor stress tolerance (with added stress of any kind making the symptoms worse)/ overwhelmed in stressful situations
- digestive issues and difficulty digesting protein
- frequent colds and infections requiring antibiotics, often adenoids/tonsils removed, grommets put in
- joint pain or stiffness
- acne, eczema or psoriasis
- mood swings and reactivity
- poor short term memory
- a tendency in many to lean towards being a loner
- cold hands and feet
- poor dream recall
- early greying of hair
- hypersensitivity to noise/bright light/smells
- tendency towards iron deficient anaemia
- poor memory
- hypoglycaemia (low blood sugar)
- much higher capability in the evening than mornings
Recent Australian study (by Griffith university, to be published) validated the following characteristics as KEY criteria that correlates directly with elevated Pyrrole (HPL) results:
These are the criteria I use in clinic to assess Pyroluria:
- Urinary pyrroles >40 mg/dL (in adults, >20 mg/dL in children) in the absence of confounders:
- exposure to extreme stress prior to collection e.g: sports event, trauma
- exposure to industrial cleaning agents e.g: solvents
- during intentional detoxification programs
- Heightened sensory sensitivity, e.g: noises, light (possibly also smells & touch in children but with reduced specificity)
- Chronic dry skin
- Patient skips breakfast
- Tendency to be a night owl
- Mood swings, labile mood without explanation
- Difficulty initiating and maintaining sleep
- Both subjective and objective poor short-term memory
- Reduced frequency of dream recall generally
- Only ‘dreams’ recalled are nightmares
- Increased frequency of illness and infection
- Patient does not read for pleasure
Pyrolles in children
In clinic I see many kids with pyrroles. Their results often range from 80/100 all the way through to 800.
The reasons their parents reach out for help and test for pyrroles usually are:
- aggressive behaviour
- uncontrolled crying/inability to calm
- described as ‘very sensitive’
- sensory issues- itchy tags, tight clothes, can’t bear hair brushing/washing, etc
- poor sleep/insomnia/bad dreams
- very fussy eating
- very prone to ear/nose/throat infections requiring multiple courses of antibiotics
- adverse reactions to vaccinations
and the list goes on.
Why has my doctor never heard of pyrolles or Pyroluria?
Chances are your doctor hasn’t heard of pyrrole disorder (and may not be interested in it) because there are no drugs to treat it. The treatment is nutritional and aimed at restoring the mineral, vitamin and essential fatty acid levels.
Many integrative doctors and psychiatrists are becoming aware of the condition, however I find that often the same identical compounded pharmacy treatment is prescribed to everyone.
The key to pyrrole treatment (as any condition) is an individualised approach.
Pyroluria and MTHFR
Many of my clients have either taken the MTHFR genetic blood/saliva test of have been told to do so. MTHFR is a gene responsible for folate metabolism and almost 50% of the population have a polymorphism in this gene. Despite it’s ‘fame’, this is just one gene that can affect methylation in the body.
Whilst I do find that many of my Pyrrole clients have methylation issues (relating to mood, detoxification, gut health and other functions), there is no direct relationship between pyrolles and MTHFR. I usually conduct a full genetic panel test with my clients in order to understand many processes in the body of which methylation and folate metabolism is just one small part. If you suffer from anxiety, depression, poor gut health, hormonal issues, toxicity and inability to cope with stress, genetic testing is a helpful piece of the puzzle.
How to get tested for pyrroles and what does my result mean?
The test is a simple urine test that I order regularly through major national labs. It needs to be collected in one of the pathology labs (in numerous locations). The pyrroles in the urine are light and heat sensitive, so the sample is promptly wrapped and frozen and sent to the lab for analysis.
The current cost of testing in Australia is about $80. I regularly order this test when the symptoms outline above are present.
Previously Australian labs reported any result >15 as elevated pyrroles. There has been a lot of research recently into benchmarking Pyrrole results and the new criteria (which I agree with based on clinic experience) is a positive result for Pyroluria is >40 for adults and >20 for children.
I always conduct additional tests besides the urine test that include blood plasma zinc and serum copper, ceruloplasmin and often whole blood histamine as per William Walsh Phd.
I also order a Hair Tissue Mineral Analysis for most of my Pyroluria clients as this provides very valuable information about adrenal health, thyroid health, levels of zinc and copper in storage and heavy metals. Watch my video HERE with examples of Hair Analysis application for Pyroluria.
Treatment for Pyroluria involves:
Balancing zinc and copper, ensuring appropriate levels of vitamin B6 and other B vitamins, the right balance of fatty acids and strategies to reduce oxidative stress.
All of these are nutrition and lifestyle treatments that need to be highly individualised based on: the level of HPL (pyrrolles) detected upon testing, current mineral status, health conditions and symptoms exhibited, presence of heavy metals and other toxicity factors as well as digestive and immune health.
Some ongoing supplementation may be needed indefinitely in order for symptoms to remain manageable long term. Without appropriate supplementation symptoms tend to return within a week or two.
With appropriate supplementation and stress management mild cases of Pyroluria tend to respond quickly. More severe cases tend to experience gradual and incremental improvement over a period of several months.
NOTE: It’s important that a clear laboratory diagnosis is determined before attempting high dose supplementation with zinc and/or B6 or any other vitamin/mineral. Working closely with a qualified health care provider knowledgeable about this condition is strongly suggested.
What’s wrong with prescribed compounded Pyrrole formulas?
Many of my clients who have seen other health professionals come in with “I was prescribed this compounded supplement for my Pyroluria and it made me feel much worse”.
This is really common unfortunately because:
a) Not every person with Pyrroles needs the same treatment!
Everyone has very individual symptoms, history, gut issues, genetics, etc so a standardised compounded formula is not going to go far and often makes things worse.
b) Taking all the required nutrients at once can be very detrimental.
Many people react to high doses of P5P (activated vitamin B6) and many react to zinc or manganese, and others react to folate/folic acid. Every person needs a step by step individual approach.
c) Other aspects of health are not addressed or considered.
There is very little use in taking a mineral and vitamin supplement for Pyrroles without addressing gut health, parasites, stomach acid, liver function, detoxification and genetics.
These are some of the reasons why you will never find me prescribing a cookie cutter compounded Pyrrole formula to anybody!
To find out more about testing and treatment for Pyroluria, click HERE to book your consult with Maria Shaflender.
Maria is a Clinical Nutritionist and Functional Medicine Practitioner. She welcomes virtual consultations from anywhere in the world.
Maria’s online Healing IBS Program is a great starting point to resolve many symptoms or Pyroluria related to the gut-brain axis.
We all know that Pyroluria is a stress intolerance disorder. I find that ALL of my Pyrrole clients benefit greatly from mindfulness based stress reduction. Here is an excellent e-course that you can do at your own pace that will help with anxiety, stress tolerance and resilience. Highly recommended (and also suitable for children over 14y.o:)
- “Nutrient Power”, William J Walsh PhD, 2012
- Dr Woody McGinnis, numerous publications on pyrrole disorder