This blog is a way of sharing the information and resources that have helped me to recover my son Roo from an Autism Spectrum Disorder. What I have learned is to view our symptoms as the results of underlying biological cause, which can be identified and healed. I say "our symptoms" because I also have a neuro-immune disorder called Myalgic Encephalomyelitis.

And, of course, I am not a doctor (although I have been known to impersonate one while doing imaginative play with my son)- this is just our story and information that has been helpful or interesting to us. I hope it is helpful and interesting to you!

Monday, March 26, 2012

The Basics of Pyroluria

Pyroluria (also called Pyrroluria, Pyrole Disorder, Mauve Factor) is generally considered to be a genetic condition that causes the overproduction of a substance (usually called kryptopyrrole or pyrole) during the synthesis of hemoglobin that binds to circulating zinc and vitamin B6, causing  a chronic deficiency in those nutrients.  It also disrupts fatty acid metabolism and can lead to a deficiency of arachidonic acid.  The many symptoms of Pyroluria are due to these deficiencies.  Pyroluria seems to strongly run in families so it is important to consider the health history of a person's birth family when considering the possibility of Pyroluria.  The list of symptoms and health problems common in Pyroluria is long and varied and individuals with Pyroluria often present very differently from each other.  Additionally, some people have very few symptoms and may have symptoms that seem contradictory.  This is because each of us is so biologically complex and there are so many factors that can change how our bodies function.

Symptoms of Pyroluria are often worsened by stress (physical and emotional), and may begin after a stressful event.  In many cases the stresses around adolescence bring out Pyroluria and the person experiences an onset or dramatic worsening of symptoms in their teens or early adulthood.  Other people experience some symptoms throughout their lives, but the symptoms may change over time and still tend to worsen with stress.  Common symptoms include:

physical symptoms- pale skin (relative to family members), anemia, thin or ridged fingernails or white spots on finger nails, poor morning appetite, tendency to become vegetarian, may gain weight on hips and butt, fatigue, sensitivity to sunlight, burns easily in sun or does not tan, hypoglycemia, joint pain, problems with cartilage (especially in the knees), prone to side stitches and unexplained nausea, motion sickness, digestive problems,

emotional symptoms- anxiety and depression are most common or at the root of many of the psychological impacts of Pyroluria.  Other emotional symptoms include mood swings, rages, panic attacks, feelings of dissociation, poor dream recall (or occasionally tendency to have bad dreams), memory problems, tendency for addictive behavior, sensitivity to some stimuli such as bright light or loud noises, may have altered or strong sense of taste and/or smell, tendency to be a "night owl" (feel more alert in evening/night), suicidal thoughts,

Health conditions that are often associated with Pyroluria include: autism, ADHD, addiction/substance abuse, Bipolar Disorder, Schizophrenia, sensory processing problems, Obsessive Compulsive Disorder,

Pyroluria is tested for by a urine test to measure the level of pyrroles in the urine.  It is most accurate if no zinc or B6 supplements are taken with a week of the test, although there is increasing evidence that the test may not be very accurate anyway.  There are quite a few people who look like they have Pyroluria based on their symptoms, have low levels of pyrroles in their urine when tested, and yet respond very well to treatment as though they did have Pyroluria.  Some people suspect that pyrroles can degrade quickly in the urine sample.  It is also possible that there are other substances that can cause this presentation. 

Pyroluria is treated with supplementation of high doses of zinc and B6 (must be in it's P5P form) in accordance with the severity of the person's Pyroluria (some people produce more pyrroles than others).  I've heard that sometimes people with Pyroluria, especially if they have been untreated for a long time, may not absorb the nutrients well from oral supplements and may need injections at the beginning of treatment.  Many people also supplement arachidonic acid (an omega-6, found in Evening Primrose Oil and Borage Oil) and manganese.  In my opinion it is also important to reduce the sources of stress in a person's life as well as learning techniques for handling stress.  It is usually believed that Pyroluria is a life-long condition requiring life-long treatment.  People tend to experience significant improvement within 1-2 weeks of beginning supplementation, and it is often reported that people begin to relapse within several weeks if they stop taking the supplements.  Some people seem to need higher doses in the beginning (could be from reduced absorption at this point or due to "filling in a hole") but then may need to reduce the dose once progress reaches a plateau. 

Additional resources:

Integrative Psychiatry on Pyroluria

Nora Gedgaudas, of Primal Body Primal Mind, discussing Pyroluria

Pyroluria:  A Hidden Disorder (this article goes into much more depth)

Naturopathy Online has a nice little article about it here.

Dr Kaslow also has a good synopsis here.