One of the most known genetic mutations in relation to zinc deficiency is Kryptopyrroluria, which causes a combined zinc and B6 deficiency and creates negative effects in the body and brain. Charles Krebs, PhD describes it best in his book Nutrition for the Brain:
“During normal break down of the heme molecule, a major component of hemoglobin, the prophyrin molecule is broken down into a metabolite that is converted to a water soluble form by conjugation and eliminated in the urine. However, when there is a faulty gene coding for the liver enzyme converting the porphyrin molecule to the water-soluble molecule, hemopyrrole is produced instead and excreted in the urine. Since pyrroles are not normally excreted in urine, a chemical test for pyrroles is used to detect this condition” (p. 65). An Organic Acid Test (OAT) is commonly used to test pyrroluria.
Kryptopyrroles are found together with hemopyrrole in the urine. Kryptopyrrole tends to join with vitamin B6 creating a complex. This complex bonds with a zinc atom and removes zinc as well as vitamin B6 from the body, potentially leading to widespread zinc and B6 deficiency in the body and brain. “Thus for every molecule of heme that is metabolized, people with this genetic fault lose an atom of zinc and a molecule of B6” (Krebs p. 66).
There is not a single gene responsible for this problem, but “different alleles coding for slightly different versions of the pyrrole metabolizing enzymes” (p. 67), leading to a varying range of expression of symptoms. Clinical symptoms associated with chronic kryptopyrroluria are neurological, cognitive, and psychological in nature. The classic symptom that is associated with this is social anxiety. Other complaints might be:
- Thinking and perceptual disorders
- schizophrenia-like symptoms
- Strong up and down emotions
- Poor memory of dreams
- Rheumatological symptoms
- Unspecified autoimmune phenomena
An imbalance of a zinc/copper ratio can be found on a Hair Tissue Mineral Analysis (HTMA), as well as an Organic Acid Test (OAT). To learn more about KPU and how nutrition affects the brain, learning, and mood, download my free comprehensive eBook, Nourishing Your Brain: A guide to understanding the essential nutrition your brain needs to optimally function, and contact me if you would like to arrange to get some testing done.
There is no reason why you or your child has to live with debilitating symptoms.